SCN1A_HUMAN
ID SCN1A_HUMAN Reviewed; 2009 AA.
AC P35498; E9PG49; Q16172; Q585T7; Q8IUJ6; Q96LA3; Q9C008;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 08-DEC-2000, sequence version 2.
DT 03-AUG-2022, entry version 226.
DE RecName: Full=Sodium channel protein type 1 subunit alpha;
DE AltName: Full=Sodium channel protein brain I subunit alpha;
DE AltName: Full=Sodium channel protein type I subunit alpha;
DE AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.1;
GN Name=SCN1A; Synonyms=NAC1, SCN1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS GEFS+2 MET-875 AND
RP HIS-1648.
RX PubMed=10742094; DOI=10.1038/74159;
RA Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G.,
RA An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C.,
RA Malafosse A.;
RT "Mutations of SCN1A, encoding a neuronal sodium channel, in two families
RT with GEFS+2.";
RL Nat. Genet. 24:343-345(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Jeong S.-Y., Goto J., Kanazawa I.;
RT "Cloning of cDNA for human voltage-gated sodium channel alpha subunit,
RT SCN1A.";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RA Sugawara T., Mazaki E.M., Yamakawa K.;
RT "Homo sapiens neuronal voltage-gated sodium channel type I (Nav1.1) mRNA.";
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT THR-1067, AND
RP ALTERNATIVE SPLICING.
RC TISSUE=Brain;
RA Ouchida M., Ohmori I.;
RT "Isoforms of human sodium channel SCN1A gene.";
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1335-1428.
RX PubMed=8062593; DOI=10.1159/000133818;
RA Malo M.S., Blanchard B.J., Andresen J.M., Srivastava K., Chen X.N., Li X.,
RA Jabs E.W., Korenberg J.R., Ingram V.M.;
RT "Localization of a putative human brain sodium channel gene (SCN1A) to
RT chromosome band 2q24.";
RL Cytogenet. Cell Genet. 67:178-186(1994).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1518-1940.
RC TISSUE=Brain;
RX PubMed=1317301; DOI=10.1016/0014-5793(92)80476-w;
RA Lu C.-M., Han J., Rado T.A., Brown G.B.;
RT "Differential expression of two sodium channel subtypes in human brain.";
RL FEBS Lett. 303:53-58(1992).
RN [8]
RP INTERACTION WITH FGF13.
RX PubMed=21566136; DOI=10.1074/jbc.m111.245803;
RA Wang C., Wang C., Hoch E.G., Pitt G.S.;
RT "Identification of novel interaction sites that determine specificity
RT between fibroblast growth factor homologous factors and voltage-gated
RT sodium channels.";
RL J. Biol. Chem. 286:24253-24263(2011).
RN [9]
RP SUBUNIT, AND INTERACTION WITH THE CONOTOXIN GVIIJ.
RX PubMed=24497506; DOI=10.1073/pnas.1324189111;
RA Gajewiak J., Azam L., Imperial J., Walewska A., Green B.R.,
RA Bandyopadhyay P.K., Raghuraman S., Ueberheide B., Bern M., Zhou H.M.,
RA Minassian N.A., Hagan R.H., Flinspach M., Liu Y., Bulaj G., Wickenden A.D.,
RA Olivera B.M., Yoshikami D., Zhang M.M.;
RT "A disulfide tether stabilizes the block of sodium channels by the
RT conotoxin muO[section sign]-GVIIJ.";
RL Proc. Natl. Acad. Sci. U.S.A. 111:2758-2763(2014).
RN [10]
RP SUBUNIT, INTERACTION WITH THE SPIDER BETA/DELTA-THERAPHOTOXIN-PRE1A, AND
RP SITE SER-1574.
RX PubMed=28428547; DOI=10.1038/s41598-017-01129-0;
RA Wingerd J.S., Mozar C.A., Ussing C.A., Murali S.S., Chin Y.K.,
RA Cristofori-Armstrong B., Durek T., Gilchrist J., Vaughan C.W., Bosmans F.,
RA Adams D.J., Lewis R.J., Alewood P.F., Mobli M., Christie M.J., Rash L.D.;
RT "The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the
RT S1-S2 voltage-sensor region for sodium channel subtype selectivity.";
RL Sci. Rep. 7:974-988(2017).
RN [11]
RP VARIANTS GEFS+2 VAL-188; LEU-1353 AND MET-1656, AND VARIANTS THR-1067 AND
RP GLY-1928.
RX PubMed=11254444; DOI=10.1086/319516;
RA Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L.,
RA Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B.,
RA Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R.,
RA George A.L. Jr., Mulley J.C., Berkovic S.F.;
RT "Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy
RT with febrile seizures plus.";
RL Am. J. Hum. Genet. 68:859-865(2001).
RN [12]
RP VARIANT GEFS+2 ARG-1204.
RX PubMed=11254445; DOI=10.1086/319524;
RA Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H.;
RT "A novel SCN1A mutation associated with generalized epilepsy with febrile
RT seizures plus -- and prevalence of variants in patients with epilepsy.";
RL Am. J. Hum. Genet. 68:866-873(2001).
RN [13]
RP VARIANTS DRVT 222-ARG--LYS-2009 DEL AND PHE-986.
RX PubMed=11359211; DOI=10.1086/320609;
RA Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C.,
RA De Jonghe P.;
RT "De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic
RT epilepsy of infancy.";
RL Am. J. Hum. Genet. 68:1327-1332(2001).
RN [14]
RP VARIANTS GEFS+2 ALA-1428 AND VAL-1685.
RX PubMed=11524484; DOI=10.1212/wnl.57.4.703;
RA Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G.,
RA Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K.;
RT "Na(v)1.1 mutations cause febrile seizures associated with afebrile partial
RT seizures.";
RL Neurology 57:703-705(2001).
RN [15]
RP VARIANT GEFS+2 THR-1270.
RX PubMed=11756608; DOI=10.1212/wnl.57.12.2265;
RA Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R.,
RA Haines J.L., Sutcliffe J.S., George A.L. Jr.;
RT "Partial and generalized epilepsy with febrile seizures plus and a novel
RT SCN1A mutation.";
RL Neurology 57:2265-2272(2001).
RN [16]
RP VARIANTS DRVT CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390; ARG-1434;
RP ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909, AND VARIANT THR-1067.
RX PubMed=12083760; DOI=10.1016/s0006-291x(02)00617-4;
RA Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K.;
RT "Significant correlation of the SCN1A mutations and severe myoclonic
RT epilepsy in infancy.";
RL Biochem. Biophys. Res. Commun. 295:17-23(2002).
RN [17]
RP VARIANTS DRVT GLY-103; ILE-112; TRP-265; ASP-343; VAL-960; ILE-985;
RP ARG-1231; LEU-1263; ASP-1685; 1807-MET--GLU-1810 DEL; GLY-1812 AND
RP SER-1831, VARIANTS ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611;
RP SER-1632; ILE-1709 AND LEU-1808, AND VARIANT THR-1067.
RX PubMed=12566275; DOI=10.1093/brain/awg053;
RA Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K.,
RA Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K., Inoue Y.;
RT "Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable
RT childhood epilepsies with frequent generalized tonic-clonic seizures.";
RL Brain 126:531-546(2003).
RN [18]
RP VARIANTS GEFS+2 CYS-790 AND THR-1852.
RX PubMed=12919402; DOI=10.1046/j.1528-1157.2003.22503.x;
RA Annesi G., Gambardella A., Carrideo S., Incorpora G., Labate A.,
RA Pasqua A.A., Civitelli D., Polizzi A., Annesi F., Spadafora P.,
RA Tarantino P., Ciro Candiano I.C., Romeo N., De Marco E.V., Ventura P.,
RA LePiane E., Zappia M., Aguglia U., Pavone L., Quattrone A.;
RT "Two novel SCN1A missense mutations in generalized epilepsy with febrile
RT seizures plus.";
RL Epilepsia 44:1257-1258(2003).
RN [19]
RP VARIANT GEFS+2 VAL-188, AND CHARACTERIZATION OF VARIANT GEFS+2 VAL-188.
RX PubMed=12576172; DOI=10.1016/s0920-1211(02)00259-0;
RA Cossette P., Loukas A., Lafreniere R.G., Rochefort D., Harvey-Girard E.,
RA Ragsdale D.S., Dunn R.J., Rouleau G.A.;
RT "Functional characterization of the D188V mutation in neuronal voltage-
RT gated sodium channel causing generalized epilepsy with febrile seizures
RT plus (GEFS).";
RL Epilepsy Res. 53:107-117(2003).
RN [20]
RP VARIANTS DRVT HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND GLU-1749.
RX PubMed=12754708; DOI=10.1002/humu.10217;
RA Claes L., Ceulemans B., Audenaert D., Smets K., Loefgren A., Del-Favero J.,
RA Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P.,
RA Wolf N.I., Van Broeckhoven C., De Jonghe P.;
RT "De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of
RT infancy.";
RL Hum. Mutat. 21:615-621(2003).
RN [21]
RP VARIANT GEFS+2 CYS-1657, CHARACTERIZATION OF VARIANTS GEFS+2 LEU-1353;
RP MET-1656; CYS-1657 AND VAL-1685, AND CHARACTERIZATION OF VARIANT DRVT
RP PHE-986.
RX PubMed=14672992; DOI=10.1523/jneurosci.23-36-11289.2003;
RA Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S.,
RA Devinsky O., George A.L. Jr.;
RT "Epilepsy-associated dysfunction in the voltage-gated neuronal sodium
RT channel SCN1A.";
RL J. Neurosci. 23:11289-11295(2003).
RN [22]
RP VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955.
RX PubMed=12610651; DOI=10.1038/sj.mp.4001241;
RA Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M.,
RA Reichert J., Buxbaum J.D., Meisler M.H.;
RT "Sodium channels SCN1A, SCN2A and SCN3A in familial autism.";
RL Mol. Psychiatry 8:186-194(2003).
RN [23]
RP VARIANTS DRVT ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426;
RP ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND 1812-TRP--LYS-1815
RP DELINS CYS.
RX PubMed=12821740; DOI=10.1212/01.wnl.0000069463.41870.2f;
RA Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F.,
RA Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M., Fontana E.,
RA Gaggero R., Granata T., Guerrini R., Loi M., La Selva L., Lispi M.L.,
RA Matricardi A., Romeo A., Tzolas V., Valseriati D., Veggiotti P.,
RA Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A., Zara F.;
RT "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.";
RL Neurology 60:1961-1967(2003).
RN [24]
RP VARIANTS DRVT PRO-1326 AND ASP-1881, AND VARIANT INFANTILE SPASMS GLY-1957.
RX PubMed=14504318; DOI=10.1212/01.wnl.0000086379.71183.78;
RA Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R.,
RA Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M.,
RA Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E.;
RT "Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of
RT infancy and infantile spasms.";
RL Neurology 61:765-769(2003).
RN [25]
RP CHARACTERIZATION OF VARIANT GEFS+2 ARG-1204.
RX PubMed=12535936; DOI=10.1016/s0306-4522(02)00698-x;
RA Spampanato J., Escayg A., Meisler M.H., Goldin A.L.;
RT "Generalized epilepsy with febrile seizures plus type 2 mutation W1204R
RT alters voltage-dependent gating of Na(v)1.1 sodium channels.";
RL Neuroscience 116:37-48(2003).
RN [26]
RP VARIANTS DRVT GLN-101; ARG-190; ILE-934; ALA-944; CYS-946; HIS-946;
RP PRO-1355; MET-1559 DEL; SER-1692; CYS-1694; PHE-1766 DEL AND CYS-1781.
RX PubMed=14738421; DOI=10.1111/j.0013-9580.2004.15103.x;
RA Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S.,
RA Ohfu M., Inoue T., Watanachai A., Kira R., Matsuo M., Muranaka H.,
RA Sofue F., Zhang B., Kaneko S., Mitsudome A., Hirose S.;
RT "Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A
RT in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI
RT (SMEB).";
RL Epilepsia 45:140-148(2004).
RN [27]
RP VARIANT GEFS+2 TYR-1866, CHARACTERIZATION OF VARIANT GEFS+2 TYR-1866, AND
RP INTERACTION WITH SCN1B.
RX PubMed=15525788; DOI=10.1523/jneurosci.2034-04.2004;
RA Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A., Aradi I.,
RA MacDonald B.T., Levin S.I., Soltesz I., Benna P., Montalenti E., Isom L.L.,
RA Goldin A.L., Meisler M.H.;
RT "A novel epilepsy mutation in the sodium channel SCN1A identifies a
RT cytoplasmic domain for beta subunit interaction.";
RL J. Neurosci. 24:10022-10034(2004).
RN [28]
RP VARIANT DRVT ASN-252.
RX PubMed=15087100; DOI=10.1016/j.pediatrneurol.2003.10.012;
RA Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G.;
RT "Clinical correlations of mutations in the SCN1A gene: from febrile
RT seizures to severe myoclonic epilepsy in infancy.";
RL Pediatr. Neurol. 30:236-243(2004).
RN [29]
RP VARIANT DRVT ASN-1713, AND VARIANT THR-1067.
RX PubMed=16122630; DOI=10.1016/j.braindev.2004.11.005;
RA Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y.,
RA Tateno A., Hachimori K., Yamakawa K., Segawa M.;
RT "A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in
RT infancy (SMEI) inherited from a father with febrile seizures.";
RL Brain Dev. 27:424-430(2005).
RN [30]
RP VARIANT GEFS+2 LEU-1857.
RX PubMed=15715999; DOI=10.1016/j.eplepsyres.2004.11.005;
RA Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T.,
RA Yamakawa K.;
RT "A family of generalized epilepsy with febrile seizures plus type 2-a new
RT missense mutation of SCN1A found in the pedigree of several patients with
RT complex febrile seizures.";
RL Epilepsy Res. 63:151-156(2005).
RN [31]
RP VARIANTS ICEGTC SER-808 AND ILE-1011, AND CHARACTERIZATION OF VARIANTS
RP ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; SER-1632; ILE-1709
RP AND LEU-1808.
RX PubMed=16210358; DOI=10.1113/jphysiol.2005.094326;
RA Rhodes T.H., Vanoye C.G., Ohmori I., Ogiwara I., Yamakawa K.,
RA George A.L. Jr.;
RT "Sodium channel dysfunction in intractable childhood epilepsy with
RT generalized tonic-clonic seizures.";
RL J. Physiol. (Lond.) 569:433-445(2005).
RN [32]
RP VARIANT FHM3 LYS-1489.
RX PubMed=16054936; DOI=10.1016/s0140-6736(05)66786-4;
RA Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B.,
RA Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M.J.M., Pusch M.,
RA Strom T.M.;
RT "Mutation in the neuronal voltage-gated sodium channel SCN1A in familial
RT hemiplegic migraine.";
RL Lancet 366:371-377(2005).
RN [33]
RP VARIANT DRVT SER-946.
RX PubMed=15944908; DOI=10.1055/s-2005-865607;
RA Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B.,
RA Hahn A., Hauser E., Hundt K., Holthausen H., Mueller U., Neubauer B.A.;
RT "SCN1A mutation analysis in myoclonic astatic epilepsy and severe
RT idiopathic generalized epilepsy of infancy with generalized tonic-clonic
RT seizures.";
RL Neuropediatrics 36:210-213(2005).
RN [34]
RP VARIANT FEB3A THR-145, AND CHARACTERIZATION OF VARIANT FEB3A THR-145.
RX PubMed=16326807; DOI=10.1073/pnas.0506818102;
RA Mantegazza M., Gambardella A., Rusconi R., Schiavon E., Annesi F.,
RA Cassulini R.R., Labate A., Carrideo S., Chifari R., Canevini M.P.,
RA Canger R., Franceschetti S., Annesi G., Wanke E., Quattrone A.;
RT "Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function
RT mutation associated with familial simple febrile seizures.";
RL Proc. Natl. Acad. Sci. U.S.A. 102:18177-18182(2005).
RN [35]
RP VARIANT GEFS+2 GLY-1742.
RX PubMed=15694566; DOI=10.1016/j.seizure.2004.12.007;
RA Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C.,
RA Cabrera D., Bedoya G., Ruiz-Linares A.;
RT "A novel SCN1A mutation associated with severe GEFS+ in a large South
RT American pedigree.";
RL Seizure 14:123-128(2005).
RN [36]
RP VARIANT DRVT PRO-1393.
RX PubMed=17129991; DOI=10.1080/08035250600778628;
RA Stefanaki E., Aggelakou V., Orfanou M., Kokori E., Boutoufianakis S.;
RT "Epilepsy with a de novo missense mutation in the sodium channel a1
RT subunit: a case report.";
RL Acta Paediatr. 95:1703-1706(2006).
RN [37]
RP VARIANTS DRVT ASP-78; PRO-162; ASN-194; LYS-217; SER-227; ARG-280; LEU-383;
RP CYS-393; SER-393; ASN-426; ARG-812; LYS-846; PRO-942; ARG-1233; GLN-1245;
RP CYS-1422; ARG-1426; LEU-1451; SER-1463; SER-1475; ALA-1668; ARG-1714;
RP GLU-1762; PHE-1773 AND THR-1780.
RX PubMed=17054684; DOI=10.1111/j.1528-1167.2006.00641.x;
RA Mancardi M.M., Striano P., Gennaro E., Madia F., Paravidino R.,
RA Scapolan S., Dalla Bernardina B., Bertini E., Bianchi A., Capovilla G.,
RA Darra F., Elia M., Freri E., Gobbi G., Granata T., Guerrini R.,
RA Pantaleoni C., Parmeggiani A., Romeo A., Santucci M., Vecchi M.,
RA Veggiotti P., Vigevano F., Pistorio A., Gaggero R., Zara F.;
RT "Familial occurrence of febrile seizures and epilepsy in severe myoclonic
RT epilepsy of infancy (SMEI) patients with SCN1A mutations.";
RL Epilepsia 47:1629-1635(2006).
RN [38]
RP CHARACTERIZATION OF VARIANTS DRVT GLU-177; SER-227; HIS-393; ASN-426;
RP GLN-939; ARG-959; PHE-1289 DEL AND ILE-1909.
RX PubMed=17054685; DOI=10.1111/j.1528-1167.2006.00643.x;
RA Ohmori I., Kahlig K.M., Rhodes T.H., Wang D.W., George A.L. Jr.;
RT "Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.";
RL Epilepsia 47:1636-1642(2006).
RN [39]
RP VARIANT GEFS+2 CYS-859, AND CHARACTERIZATION OF VARIANT GEFS+2 CYS-859.
RX PubMed=16525050; DOI=10.1523/jneurosci.2977-05.2006;
RA Barela A.J., Waddy S.P., Lickfett J.G., Hunter J., Anido A., Helmers S.L.,
RA Goldin A.L., Escayg A.;
RT "An epilepsy mutation in the sodium channel SCN1A that decreases channel
RT excitability.";
RL J. Neurosci. 26:2714-2723(2006).
RN [40]
RP VARIANTS DRVT LEU-403; ASN-413; HIS-946; ASP-1238; GLY-1396 AND GLN-1645.
RX PubMed=16713920; DOI=10.1016/s1474-4422(06)70446-x;
RA Berkovic S.F., Harkin L., McMahon J.M., Pelekanos J.T., Zuberi S.M.,
RA Wirrell E.C., Gill D.S., Iona X., Mulley J.C., Scheffer I.E.;
RT "De-novo mutations of the sodium channel gene SCN1A in alleged vaccine
RT encephalopathy: a retrospective study.";
RL Lancet Neurol. 5:488-492(2006).
RN [41]
RP VARIANT DRVT THR-1231.
RX PubMed=16458823; DOI=10.1016/j.pediatrneurol.2005.07.009;
RA Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A.,
RA Ramachandrannair R., Elterman R.D., Muhle H., Reinsdorf J., Shields W.D.,
RA Meisler M.H., Escayg A.;
RT "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of
RT infancy.";
RL Pediatr. Neurol. 34:116-120(2006).
RN [42]
RP VARIANTS CYS-393; PRO-395; GLU-422; GLY-626; VAL-1480; SER-1543; GLN-1636
RP AND HIS-1657, VARIANTS DRVT HIS-79; CYS-84; TRP-101; ARG-199; THR-239;
RP LEU-403; ASN-413; GLY-674; PRO-783; GLU-944; LEU-945; GLU-950; ASP-1238;
RP MET-1390; GLY-1396; PRO-1441; VAL-1545; CYS-1596; GLN-1645; VAL-1707;
RP ARG-1721 AND THR-1922, VARIANT GEFS+2 VAL-973, AND VARIANT DEE6B MET-226.
RX PubMed=17347258; DOI=10.1093/brain/awm002;
RG The infantile epileptic encephalopathy referral consortium;
RA Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T.,
RA Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M.,
RA Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G.,
RA Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C.,
RA Scheffer I.E.;
RT "The spectrum of SCN1A-related infantile epileptic encephalopathies.";
RL Brain 130:843-852(2007).
RN [43]
RP VARIANTS DRVT GLN-101; ILE-322; GLY-356; THR-358; CYS-393; HIS-393;
RP LEU-957; TYR-1414; TRP-1470; ARG-1588; TYR-1608; MET-1630; ARG-1658;
RP ARG-1716; VAL-1783 AND LYS-1787, AND VARIANTS GEFS+2 PRO-74; ARG-1204 AND
RP SER-1687.
RX PubMed=17561957; DOI=10.1111/j.1528-1167.2007.01122.x;
RA Marini C., Mei D., Temudo T., Ferrari A.R., Buti D., Dravet C., Dias A.I.,
RA Moreira A., Calado E., Seri S., Neville B., Narbona J., Reid E.,
RA Michelucci R., Sicca F., Cross H.J., Guerrini R.;
RT "Idiopathic epilepsies with seizures precipitated by fever and SCN1A
RT abnormalities.";
RL Epilepsia 48:1678-1685(2007).
RN [44]
RP VARIANT GEFS+2 ILE-1366, AND VARIANT ICEGTC ILE-1366.
RX PubMed=17507202; DOI=10.1016/j.eplepsyres.2007.03.018;
RA Osaka H., Ogiwara I., Mazaki E., Okamura N., Yamashita S., Iai M.,
RA Yamada M., Kurosawa K., Iwamoto H., Yasui-Furukori N., Kaneko S.,
RA Fujiwara T., Inoue Y., Yamakawa K.;
RT "Patients with a sodium channel alpha 1 gene mutation show wide phenotypic
RT variation.";
RL Epilepsy Res. 75:46-51(2007).
RN [45]
RP VARIANT FHM3 GLN-1649.
RX PubMed=17397047; DOI=10.1002/humu.9486;
RA Vanmolkot K.R., Babini E., de Vries B., Stam A.H., Freilinger T.,
RA Terwindt G.M., Norris L., Haan J., Frants R.R., Ramadan N.M., Ferrari M.D.,
RA Pusch M., van den Maagdenberg A.M., Dichgans M.;
RT "The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with
RT familial hemiplegic migraine: genetic and functional studies. Mutation in
RT brief #957. Online.";
RL Hum. Mutat. 28:522-522(2007).
RN [46]
RP CHARACTERIZATION OF VARIANT GEFS+2 THR-1852, SUBCELLULAR LOCATION, AND
RP INTERACTION WITH SCN1B.
RX PubMed=17928445; DOI=10.1523/jneurosci.3515-07.2007;
RA Rusconi R., Scalmani P., Cassulini R.R., Giunti G., Gambardella A.,
RA Franceschetti S., Annesi G., Wanke E., Mantegazza M.;
RT "Modulatory proteins can rescue a trafficking defective epileptogenic
RT Nav1.1 Na+ channel mutant.";
RL J. Neurosci. 27:11037-11046(2007).
RN [47]
RP VARIANT PHE-790, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME.
RX PubMed=17679682; DOI=10.1212/01.wnl.0000266666.10404.53;
RA Grosso S., Orrico A., Galli L., Di Bartolo R., Sorrentino V., Balestri P.;
RT "SCN1A mutation associated with atypical Panayiotopoulos syndrome.";
RL Neurology 69:609-611(2007).
RN [48]
RP VARIANT FOCAL EPILEPSY PHE-1771.
RX PubMed=18330841; DOI=10.1055/s-2008-1062703;
RA Okumura A., Kurahashi H., Hirose S., Okawa N., Watanabe K.;
RT "Focal epilepsy resulting from a de novo SCN1A mutation.";
RL Neuropediatrics 38:253-256(2007).
RN [49]
RP VARIANT FHM3 SER-1174.
RX PubMed=18021921; DOI=10.1016/j.pediatrneurol.2007.06.016;
RA Gargus J.J., Tournay A.;
RT "Novel mutation confirms seizure locus SCN1A is also familial hemiplegic
RT migraine locus FHM3.";
RL Pediatr. Neurol. 37:407-410(2007).
RN [50]
RP VARIANT GEFS+2 MET-978.
RX PubMed=17927801; DOI=10.1111/j.1600-0404.2007.00941.x;
RA Selmer K.K., Egeland T., Solaas M.H., Nakken K.O., Kjeldsen M.J.,
RA Friis M.L., Brandal K., Corey L.A., Undlien D.E.;
RT "Genetic screening of Scandinavian families with febrile seizures and
RT epilepsy or GEFS+.";
RL Acta Neurol. Scand. 117:289-292(2008).
RN [51]
RP VARIANTS DRVT SER-118; GLU-366; PRO-1207; MET-1335; SER-1358 AND CYS-1462,
RP VARIANT GEFS+2 GLN-377, AND VARIANT GLY-1928.
RX PubMed=18413471; DOI=10.1001/archneur.65.4.489;
RA Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M.,
RA Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G.,
RA Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R.,
RA Bresolin N., Bassi M.T.;
RT "Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations
RT identified.";
RL Arch. Neurol. 65:489-494(2008).
RN [52]
RP VARIANT GEFS+2 THR-1867.
RX PubMed=18251839; DOI=10.1111/j.1528-1167.2007.01439_2.x;
RA Hindocha N., Nashef L., Elmslie F., Birch R., Zuberi S., Al-Chalabi A.,
RA Crotti L., Schwartz P.J., Makoff A.;
RT "Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an
RT SCN1A mutation.";
RL Epilepsia 49:360-365(2008).
RN [53]
RP VARIANT CYS-1575.
RX PubMed=18031552; DOI=10.1111/j.1528-1167.2007.01411.x;
RA Ohmori I., Ouchida M., Kobayashi K., Jitsumori Y., Inoue T., Shimizu K.,
RA Matsui H., Ohtsuka Y., Maegaki Y.;
RT "Rasmussen encephalitis associated with SCN 1 A mutation.";
RL Epilepsia 49:521-526(2008).
RN [54]
RP VARIANT GEFS+2 HIS-935.
RX PubMed=18566737; DOI=10.1007/s10038-008-0306-y;
RA Sun H., Zhang Y., Liang J., Liu X., Ma X., Wu H., Xu K., Qin J., Qi Y.,
RA Wu X.;
RT "SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with
RT generalized epilepsy with febrile seizures plus.";
RL J. Hum. Genet. 53:769-774(2008).
RN [55]
RP VARIANT DRVT CYS-280.
RX PubMed=18639757; DOI=10.1016/j.pediatrneurol.2008.04.003;
RA Miyama S., Goto T., Inoue Y., Yamakawa K.;
RT "Monozygotic twins with severe myoclonic epilepsy in infancy discordant for
RT clinical features.";
RL Pediatr. Neurol. 39:120-122(2008).
RN [56]
RP VARIANT THR-1067.
RX PubMed=19694741; DOI=10.1111/j.1365-2125.2009.03437.x;
RA Lakhan R., Kumari R., Misra U.K., Kalita J., Pradhan S., Mittal B.;
RT "Differential role of sodium channels SCN1A and SCN2A gene polymorphisms
RT with epilepsy and multiple drug resistance in the north Indian
RT population.";
RL Br. J. Clin. Pharmacol. 68:214-220(2009).
RN [57]
RP VARIANT DRVT LYS-1503.
RX PubMed=19783390; DOI=10.1016/j.braindev.2009.08.009;
RA Shi X., Yasumoto S., Nakagawa E., Fukasawa T., Uchiya S., Hirose S.;
RT "Missense mutation of the sodium channel gene SCN2A causes Dravet
RT syndrome.";
RL Brain Dev. 31:758-762(2009).
RN [58]
RP VARIANTS GLN-542 AND PHE-790, VARIANT FEB3A ASP-1308, VARIANT DRVT
RP CYS-1648, VARIANTS GEFS+2 THR-899; ILE-976; ASN-1249 AND MET-1250, AND
RP POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS SYNDROME.
RX PubMed=19522081; DOI=10.1111/j.1399-0004.2009.01155.x;
RA Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P.,
RA Sorrentino V.;
RT "Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian
RT patients with idiopathic childhood epilepsies.";
RL Clin. Genet. 75:579-581(2009).
RN [59]
RP VARIANT GEFS+2 LEU-218, AND POSSIBLE INVOLVEMENT IN PANAYIOTOPOULOS
RP SYNDROME.
RX PubMed=19339291; DOI=10.1177/0883073808324537;
RA Livingston J.H., Cross J.H., Mclellan A., Birch R., Zuberi S.M.;
RT "A novel inherited mutation in the voltage sensor region of SCN1A is
RT associated with Panayiotopoulos syndrome in siblings and generalized
RT epilepsy with febrile seizures plus.";
RL J. Child Neurol. 24:503-508(2009).
RN [60]
RP VARIANTS GLN-542; HIS-604; THR-924; ILE-1079; THR-1109; ASP-1308; CYS-1575
RP AND GLY-1928, AND VARIANTS DRVT VAL-58; PHE-61; HIS-79; GLN-101; TRP-101;
RP ASN-124; ARG-171; VAL-175; LYS-191; TYR-191; GLY-194; GLU-223; SER-227;
RP SER-232; TYR-243; ARG-277; LEU-281; SER-281; ILE-322; PHE-340; ASP-343;
RP ARG-345; ASP-355; ILE-357; GLN-378; CYS-393; MET-400 DEL; CYS-426; PHE-525;
RP GLY-626; ARG-843; CYS-859; LYS-875; LEU-896; PHE-927; CYS-931; ILE-934;
RP PRO-939; ASN-943; SER-949; TYR-949; LYS-973; PRO-986; GLY-998; LYS-1068;
RP GLY-1239; TYR-1239; ASP-1255; VAL-1275; SER-1284; PHE-1289 DEL; SER-1316;
RP PRO-1328; LYS-1367; SER-1391; GLY-1416; ILE-1431; MET-1437; PHE-1473 DEL;
RP ILE-1483 DEL; GLY-1484; ILE-1538; ALA-1544; LYS-1561; GLU-1579; GLU-1586;
RP CYS-1596; LEU-1596; ILE-1612; GLY-1639; HIS-1648; ARG-1658; MET-1658;
RP LYS-1664; ARG-1675; PHE-1677; LYS-1714; CYS-1725; ASN-1771; THR-1780;
RP HIS-1781; MET-1782; SER-1782; THR-1783; VAL-1783; LYS-1788; ILE-1808;
RP SER-1812; 1813-GLU--PHE-1815 DEL AND PHE-1835.
RX PubMed=18930999; DOI=10.1136/jmg.2008.062323;
RA Depienne C., Trouillard O., Saint-Martin C., Gourfinkel-An I.,
RA Bouteiller D., Carpentier W., Keren B., Abert B., Gautier A., Baulac S.,
RA Arzimanoglou A., Cazeneuve C., Nabbout R., LeGuern E.;
RT "Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis
RT of 333 patients.";
RL J. Med. Genet. 46:183-191(2009).
RN [61]
RP VARIANTS FHM3 HIS-1489 AND LEU-1499.
RX PubMed=19332696; DOI=10.1212/01.wnl.0000345393.53132.8c;
RA Vahedi K., Depienne C., Le Fort D., Riant F., Chaine P., Trouillard O.,
RA Gaudric A., Morris M.A., LeGuern E., Tournier-Lasserve E., Bousser M.-G.;
RT "Elicited repetitive daily blindness: a new phenotype associated with
RT hemiplegic migraine and SCN1A mutations.";
RL Neurology 72:1178-1183(2009).
RN [62]
RP VARIANT GEFS+2 HIS-388.
RX PubMed=19464195; DOI=10.1016/j.seizure.2009.04.009;
RA Mahoney K., Moore S.J., Buckley D., Alam M., Parfrey P., Penney S.,
RA Merner N., Hodgkinson K., Young T.L.;
RT "Variable neurologic phenotype in a GEFS+ family with a novel mutation in
RT SCN1A.";
RL Seizure 18:492-497(2009).
RN [63]
RP VARIANT THR-1067.
RX PubMed=20682179; DOI=10.1016/j.arcmed.2010.04.007;
RA Ebrahimi A., Houshmand M., Tonekaboni S.H., Fallah Mahboob Passand M.S.,
RA Zainali S., Moghadasi M.;
RT "Two novel mutations in SCN1A gene in Iranian patients with epilepsy.";
RL Arch. Med. Res. 41:207-214(2010).
RN [64]
RP VARIANTS GEFS+2 HIS-946 AND LEU-1765, AND CHARACTERIZATION OF VARIANTS
RP GEFS+2 HIS-946 AND LEU-1765.
RX PubMed=20550552; DOI=10.1111/j.1528-1167.2010.02645.x;
RA Liao W.P., Shi Y.W., Long Y.S., Zeng Y., Li T., Yu M.J., Su T., Deng P.,
RA Lei Z.G., Xu S.J., Deng W.Y., Liu X.R., Sun W.W., Yi Y.H., Xu Z.C.,
RA Duan S.;
RT "Partial epilepsy with antecedent febrile seizures and seizure aggravation
RT by antiepileptic drugs: associated with loss of function of Na(v) 1.1.";
RL Epilepsia 51:1669-1678(2010).
RN [65]
RP VARIANTS DRVT ILE-1612 AND GLY-1756.
RX PubMed=20452746; DOI=10.1016/j.eplepsyres.2010.04.003;
RA Herini E.S., Gunadi Harahap I.S., Yusoff S., Morikawa S., Patria S.Y.,
RA Nishimura N., Sunartini Sutaryo S., Takada S., Matsuo M., Nishio H.;
RT "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical
RT manifestations and SCN1A mutations in Indonesian patients.";
RL Epilepsy Res. 90:132-139(2010).
RN [66]
RP VARIANT GLU-1637.
RX PubMed=20392657; DOI=10.1016/j.ejpn.2010.03.002;
RA Nishri D., Blumkin L., Lev D., Leshinsky-Silver E., Abu-Rashid M.,
RA Birch R., Zuberi S.M., Lerman-Sagie T.;
RT "Hepatic coma culminating in severe brain damage in a child with a SCN1A
RT mutation.";
RL Eur. J. Paediatr. Neurol. 14:456-459(2010).
RN [67]
RP VARIANTS DRVT GLN-862 AND LYS-954.
RX PubMed=20110217; DOI=10.1177/0883073809357241;
RA Arlier Z., Bayri Y., Kolb L.E., Erturk O., Ozturk A.K., Bayrakli F.,
RA Bilguvar K., Moliterno J.A., Dervent A., Demirbilek V., Yalcinkaya C.,
RA Korkmaz B., Tuysuz B., Gunel M.;
RT "Four novel SCN1A mutations in Turkish patients with severe myoclonic
RT epilepsy of infancy (SMEI).";
RL J. Child Neurol. 25:1265-1268(2010).
RN [68]
RP VARIANT GEFS+2 THR-27, VARIANTS DRVT LEU-63; VAL-239 AND ARG-1433, AND
RP VARIANT ASP-1308.
RX PubMed=20729507; DOI=10.1177/0883073810365737;
RA Nicita F., Spalice A., Papetti L., Ursitti F., Parisi P., Gennaro E.,
RA Zara F., Iannetti P.;
RT "Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian
RT patients with GEFS+ spectrum (seizures plus, classical and borderline
RT severe myoclonic epilepsy of infancy).";
RL J. Child Neurol. 25:1369-1376(2010).
RN [69]
RP VARIANTS DRVT SER-90; THR-91; TRP-101; GLN-101; THR-239; ARG-259; HIS-393;
RP TYR-939; GLY-952; LYS-1210; PRO-1260; PRO-1287; MET-1335; MET-1390;
RP GLU-1433; GLU-1586 AND THR-1783.
RX PubMed=20431604; DOI=10.1038/jhg.2010.39;
RA Sun H., Zhang Y., Liu X., Ma X., Yang Z., Qin J., Jiang Y., Qi Y., Wu X.;
RT "Analysis of SCN1A mutation and parental origin in patients with Dravet
RT syndrome.";
RL J. Hum. Genet. 55:421-427(2010).
RN [70]
RP VARIANTS DRVT CYS-84; GLN-101; LYS-171; THR-175; ASN-194; SER-227; PHE-406;
RP ASN-413; PRO-783; GLU-944; LEU-945; HIS-946; GLU-950; GLY-1396; LYS-1450;
RP VAL-1545; GLN-1645; ARG-1726 AND THR-1783, AND VARIANTS HIS-604; GLN-1636
RP AND HIS-1657.
RX PubMed=19589774; DOI=10.1136/jmg.2008.065912;
RA Heron S.E., Scheffer I.E., Iona X., Zuberi S.M., Birch R., McMahon J.M.,
RA Bruce C.M., Berkovic S.F., Mulley J.C.;
RT "De novo SCN1A mutations in Dravet syndrome and related epileptic
RT encephalopathies are largely of paternal origin.";
RL J. Med. Genet. 47:137-141(2010).
RN [71]
RP VARIANTS DRVT ASN-124; TYR-191; LYS-875; LYS-1367; SER-1514; HIS-1648;
RP MET-1658; LYS-1664 AND MET-1782.
RX PubMed=20522430; DOI=10.1136/jmg.2009.074328;
RA Depienne C., Trouillard O., Gourfinkel-An I., Saint-Martin C.,
RA Bouteiller D., Graber D., Barthez-Carpentier M.A., Gautier A.,
RA Villeneuve N., Dravet C., Livet M.O., Rivier-Ringenbach C., Adam C.,
RA Dupont S., Baulac S., Heron D., Nabbout R., Leguern E.;
RT "Mechanisms for variable expressivity of inherited SCN1A mutations causing
RT Dravet syndrome.";
RL J. Med. Genet. 47:404-410(2010).
RN [72]
RP VARIANT GEFS+2 LYS-1795.
RX PubMed=20600615; DOI=10.1016/j.neulet.2010.06.040;
RA Li N., Zhang J., Guo J.F., Yan X.X., Xia K., Tang B.S.;
RT "Novel mutation of SCN1A in familial generalized epilepsy with febrile
RT seizures plus.";
RL Neurosci. Lett. 480:211-214(2010).
RN [73]
RP VARIANTS DRVT ILE-1612 AND GLY-1756.
RX PubMed=19563458; DOI=10.1111/j.1442-200x.2009.02916.x;
RA Herini E.S., Gunadi H., van Kempen M.J., Yusoff S., Sutaryo S.,
RA Patria S.Y., Matsuo M., Lindhout D., Nishio H.;
RT "Novel SCN1A mutations in Indonesian patients with severe myoclonic
RT epilepsy in infancy.";
RL Pediatr. Int. 52:234-239(2010).
RN [74]
RP VARIANT GEFS+2 PHE-1309.
RX PubMed=20117752; DOI=10.1016/j.pediatrneurol.2009.09.007;
RA Dimova P.S., Yordanova I., Bojinova V., Jordanova A., Kremenski I.;
RT "Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.";
RL Pediatr. Neurol. 42:137-140(2010).
RN [75]
RP VARIANT DRVT GLU-1669.
RX PubMed=21555645; DOI=10.1001/archneurol.2011.98;
RA Freilich E.R., Jones J.M., Gaillard W.D., Conry J.A., Tsuchida T.N.,
RA Reyes C., Dib-Hajj S., Waxman S.G., Meisler M.H., Pearl P.L.;
RT "Novel SCN1A mutation in a proband with malignant migrating partial
RT seizures of infancy.";
RL Arch. Neurol. 68:665-671(2011).
RN [76]
RP VARIANT GEFS+2 HIS-859, VARIANT DRVT GLY-865, CHARACTERIZATION OF VARIANT
RP GEFS+2 HIS-859, AND CHARACTERIZATION OF VARIANTS DRVT GLY-865; CYS-946 AND
RP HIS-946.
RX PubMed=21864321; DOI=10.1111/j.1460-9568.2011.07826.x;
RA Volkers L., Kahlig K.M., Verbeek N.E., Das J.H., van Kempen M.J.,
RA Stroink H., Augustijn P., van Nieuwenhuizen O., Lindhout D.,
RA George A.L. Jr., Koeleman B.P., Rook M.B.;
RT "Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or
RT Dravet syndrome.";
RL Eur. J. Neurosci. 34:1268-1275(2011).
RN [77]
RP VARIANTS DRVT PHE-17 DEL; THR-68; ASN-79; CYS-84; PRO-98; GLN-101; TRP-101;
RP ARG-108; ASP-127; ARG-199; SER-227; THR-227; SER-232; ARG-233; VAL-342;
RP ASP-343; TRP-351; SER-359; ARG-363; ARG-384; CYS-393; HIS-393; VAL-400;
RP VAL-403; PHE-406; GLY-626; ASP-762; THR-785; ILE-812; ARG-842;
RP 854-GLY-LEU-855 DEL; CYS-859; GLN-862; PRO-890; CYS-932; PRO-933; CYS-946;
RP HIS-946; ARG-950; LYS-954; LYS-956; LEU-957; ILE-976; VAL-979; ARG-993;
RP 999-ASN-LEU-1000 DELINS LEU-ILE-SER; LYS-1208; LYS-1221; PHE-1230;
RP ASP-1238; ALA-1266; ASN-1288; VAL-1320; PRO-1326; GLY-1350; ARG-1358;
RP PRO-1370; HIS-1378; THR-1378; ILE-1394; TYR-1396; SER-1417; PHE-1423;
RP ALA-1429 DEL; VAL-1433; LYS-1450; SER-1451; LYS-1454; HIS-1462; LYS-1476;
RP LYS-1503; GLY-1544; GLU-1586; ARG-1588; HIS-1592; PRO-1592; SER-1605;
RP GLU-1637; THR-1638; CYS-1648; GLU-1653; PRO-1660; PRO-1667; LEU-1668;
RP ILE-1672; THR-1673; THR-1683; ASP-1684; TRP-1688; ARG-1714; ASN-1763;
RP ASN-1770; PHE-1770; THR-1770; THR-1780; VAL-1783; LYS-1787; PRO-1832;
RP LYS-1852; LEU-1855; GLU-1880; THR-1909 DEL AND ARG-1927 DELINS ILE-ILE-GLN,
RP VARIANTS GEFS+2 LEU-218; ILE-254; GLY-291; THR-960; VAL-973; SER-1204;
RP PHE-1230; ASP-1414; HIS-1596; LEU-1739 AND THR-1867, AND VARIANTS ASN-45;
RP VAL-333; ASN-382; HIS-604; ILE-699; THR-924; HIS-931; GLU-1006; ILE-1079;
RP THR-1109; ASP-1308; ASP-1326; MET-1483 AND PHE-1683.
RX PubMed=21248271; DOI=10.1212/wnl.0b013e31820c309b;
RA Zuberi S.M., Brunklaus A., Birch R., Reavey E., Duncan J., Forbes G.H.;
RT "Genotype-phenotype associations in SCN1A-related epilepsies.";
RL Neurology 76:594-600(2011).
RN [78]
RP VARIANT DRVT GLY-862.
RX PubMed=21753172; DOI=10.1212/wnl.0b013e318227046d;
RA Carranza Rojo D., Hamiwka L., McMahon J.M., Dibbens L.M., Arsov T.,
RA Suls A., Stoedberg T., Kelley K., Wirrell E., Appleton B., Mackay M.,
RA Freeman J.L., Yendle S.C., Berkovic S.F., Bienvenu T., De Jonghe P.,
RA Thorburn D.R., Mulley J.C., Mefford H.C., Scheffer I.E.;
RT "De novo SCN1A mutations in migrating partial seizures of infancy.";
RL Neurology 77:380-383(2011).
RN [79]
RP VARIANTS DRVT VAL-1339 AND LEU-1630.
RX PubMed=22092154; DOI=10.1111/j.1528-1167.2011.03311.x;
RA Okumura A., Uematsu M., Imataka G., Tanaka M., Okanishi T., Kubota T.,
RA Sudo A., Tohyama J., Tsuji M., Ohmori I., Naiki M., Hiraiwa-Sofue A.,
RA Sato H., Saitoh S., Shimizu T.;
RT "Acute encephalopathy in children with Dravet syndrome.";
RL Epilepsia 53:79-86(2012).
RN [80]
RP VARIANTS LEU-982; CYS-1575 AND LEU-1977.
RX PubMed=22309220; DOI=10.1111/j.1528-1167.2011.03402.x;
RA Saitoh M., Shinohara M., Hoshino H., Kubota M., Amemiya K., Takanashi J.L.,
RA Hwang S.K., Hirose S., Mizuguchi M.;
RT "Mutations of the SCN1A gene in acute encephalopathy.";
RL Epilepsia 53:558-564(2012).
RN [81]
RP VARIANTS DRVT VAL-289; ARG-379 AND HIS-393.
RX PubMed=22612257; DOI=10.1111/j.1528-1167.2012.03516.x;
RA Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C.,
RA Steiner I., Hansen J., Courage C., Gallati S., Buerki S., Strozzi S.,
RA Simonetti B.G., Grunt S., Steinlin M., Alber M., Wolff M., Klopstock T.,
RA Prott E.C., Lorenz R., Spaich C., Rona S., Lakshminarasimhan M., Kroell J.,
RA Dorn T., Kraemer G., Synofzik M., Becker F., Weber Y.G., Lerche H.,
RA Boehm D., Biskup S.;
RT "Targeted next generation sequencing as a diagnostic tool in epileptic
RT disorders.";
RL Epilepsia 53:1387-1398(2012).
RN [82]
RP VARIANTS DRVT CYS-84; GLN-101; TRP-101; ILE-105; ARG-179; ARG-190; ARG-226;
RP SER-227; ARG-259; ARG-280; ALA-281; PRO-363; ARG-384; HIS-393; TRP-409;
RP CYS-426; MET-875; ILE-876; PHE-896; ILE-934; PHE-940; CYS-946; HIS-946;
RP LEU-987; GLY-1316; VAL-1339; MET-1344; PRO-1355; VAL-1385; GLY-1418;
RP PRO-1427; CYS-1453; HIS-1462; SER-1472; TYR-1485; GLU-1503 DEL; LYS-1503;
RP VAL-1545; ARG-1555; GLY-1608; LEU-1630; ASN-1638; SER-1642; VAL-1662;
RP PRO-1667; PHE-1677; THR-1683; SER-1692; CYS-1694; GLY-1727; ARG-1741;
RP PHE-1766 DEL; PHE-1771; THR-1783; VAL-1783 AND THR-1792, VARIANTS ICEGTC
RP SER-90; GLN-101; SER-178; MET-252; ARG-290; HIS-393; ILE-896; ALA-944;
RP GLN-1213; CYS-1254; THR-1325; PRO-1328; LEU-1357; ARG-1376; ASP-1429;
RP HIS-1462; LYS-1511; VAL-1619; SER-1684; PRO-1724; CYS-1781 AND TRP-1861,
RP AND VARIANTS GLN-542 AND CYS-1575.
RX PubMed=23195492; DOI=10.1016/j.eplepsyres.2012.06.006;
RA Wang J.W., Shi X.Y., Kurahashi H., Hwang S.K., Ishii A., Higurashi N.,
RA Kaneko S., Hirose S.;
RT "Prevalence of SCN1A mutations in children with suspected Dravet syndrome
RT and intractable childhood epilepsy.";
RL Epilepsy Res. 102:195-200(2012).
RN [83]
RP VARIANTS DRVT ASN-194 AND ASP-1238.
RX PubMed=23662938; DOI=10.1111/epi.12203;
RA Kodera H., Kato M., Nord A.S., Walsh T., Lee M., Yamanaka G., Tohyama J.,
RA Nakamura K., Nakagawa E., Ikeda T., Ben-Zeev B., Lev D., Lerman-Sagie T.,
RA Straussberg R., Tanabe S., Ueda K., Amamoto M., Ohta S., Nonoda Y.,
RA Nishiyama K., Tsurusaki Y., Nakashima M., Miyake N., Hayasaka K.,
RA King M.C., Matsumoto N., Saitsu H.;
RT "Targeted capture and sequencing for detection of mutations causing early
RT onset epileptic encephalopathy.";
RL Epilepsia 54:1262-1269(2013).
RN [84]
RP VARIANT ALA-1275.
RX PubMed=23647072; DOI=10.1111/epi.12201;
RA Veeramah K.R., Johnstone L., Karafet T.M., Wolf D., Sprissler R.,
RA Salogiannis J., Barth-Maron A., Greenberg M.E., Stuhlmann T., Weinert S.,
RA Jentsch T.J., Pazzi M., Restifo L.L., Talwar D., Erickson R.P.,
RA Hammer M.F.;
RT "Exome sequencing reveals new causal mutations in children with epileptic
RT encephalopathies.";
RL Epilepsia 54:1270-1281(2013).
RN [85]
RP VARIANTS ASN-45 AND TRP-1988, AND VARIANT ICEGTC SER-359.
RX PubMed=23708187; DOI=10.1038/ng.2646;
RA Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J., Cook J.,
RA Khan A., Dorschner M.O., Weaver M., Calvert S., Malone S., Wallace G.,
RA Stanley T., Bye A.M., Bleasel A., Howell K.B., Kivity S., Mackay M.T.,
RA Rodriguez-Casero V., Webster R., Korczyn A., Afawi Z., Zelnick N.,
RA Lerman-Sagie T., Lev D., Moeller R.S., Gill D., Andrade D.M., Freeman J.L.,
RA Sadleir L.G., Shendure J., Berkovic S.F., Scheffer I.E., Mefford H.C.;
RT "Targeted resequencing in epileptic encephalopathies identifies de novo
RT mutations in CHD2 and SYNGAP1.";
RL Nat. Genet. 45:825-830(2013).
RN [86]
RP VARIANT DEE6B LEU-422.
RX PubMed=24776920; DOI=10.1684/epd.2014.0649;
RA Ohashi T., Akasaka N., Kobayashi Y., Magara S., Kawashima H., Matsumoto N.,
RA Saitsu H., Tohyama J.;
RT "Infantile epileptic encephalopathy with a hyperkinetic movement disorder
RT and hand stereotypies associated with a novel SCN1A mutation.";
RL Epileptic Disord. 16:208-212(2014).
RN [87]
RP VARIANTS DRVT THR-113; 450-GLN--LYS-2009 DEL AND ARG-1588.
RX PubMed=25818041; DOI=10.1111/epi.12954;
RA Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D.,
RA Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A., Moharir M.,
RA Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III;
RT "Diagnostic yield of genetic testing in epileptic encephalopathy in
RT childhood.";
RL Epilepsia 56:707-716(2015).
RN [88]
RP VARIANTS LEU-982; CYS-1575 AND SER-1674.
RX PubMed=26311622; DOI=10.1016/j.eplepsyres.2015.08.001;
RA Saitoh M., Ishii A., Ihara Y., Hoshino A., Terashima H., Kubota M.,
RA Kikuchi K., Yamanaka G., Amemiya K., Hirose S., Mizuguchi M.;
RT "Missense mutations in sodium channel SCN1A and SCN2A predispose children
RT to encephalopathy with severe febrile seizures.";
RL Epilepsy Res. 117:1-6(2015).
RN [89]
RP VARIANT VAL-1440.
RX PubMed=26637798; DOI=10.1016/j.neuron.2015.11.009;
RA D'Gama A.M., Pochareddy S., Li M., Jamuar S.S., Reiff R.E., Lam A.T.,
RA Sestan N., Walsh C.A.;
RT "Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates
RT Multiple Genetic Mechanisms.";
RL Neuron 88:910-917(2015).
RN [90]
RP VARIANTS DRVT GLN-101; 1284-TRP--LYS-2009 DEL AND LEU-1345.
RX PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263;
RA Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A.,
RA Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L., Kurian M.A.,
RA Scott R.H.;
RT "Improving diagnosis and broadening the phenotypes in early-onset seizure
RT and severe developmental delay disorders through gene panel analysis.";
RL J. Med. Genet. 53:310-317(2016).
RN [91]
RP VARIANT DRVT HIS-393.
RX PubMed=28544625; DOI=10.1002/ajmg.a.38282;
RA Le S.V., Le P.H.T., Le T.K.V., Kieu Huynh T.T., Hang Do T.T.;
RT "A mutation in GABRB3 associated with Dravet syndrome.";
RL Am. J. Med. Genet. A 173:2126-2131(2017).
RN [92]
RP VARIANTS DRVT ARG-190; PRO-228; ILE-1605 AND GLN-1645, AND VARIANT ASP-616.
RX PubMed=27864847; DOI=10.1002/humu.23149;
RG Clinical Study Group;
RA Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D.,
RA Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D., Bigoni S.,
RA Barba C., Mari F., Montomoli M., Pisano T., Rosati A., Guerrini R.;
RT "Diagnostic targeted resequencing in 349 patients with drug-resistant
RT pediatric epilepsies identifies causative mutations in 30 different
RT genes.";
RL Hum. Mutat. 38:216-225(2017).
RN [93]
RP INVOLVEMENT IN DEE6B, AND VARIANTS DEE6B MET-226 AND SER-1345.
RX PubMed=28794249; DOI=10.1212/wnl.0000000000004331;
RG DDD Study;
RA Sadleir L.G., Mountier E.I., Gill D., Davis S., Joshi C., DeVile C.,
RA Kurian M.A., Mandelstam S., Wirrell E., Nickels K.C., Murali H.R.,
RA Carvill G., Myers C.T., Mefford H.C., Scheffer I.E.;
RT "Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early
RT profound Thr226Met phenotype.";
RL Neurology 89:1035-1042(2017).
RN [94]
RP VARIANT GLN-187.
RX PubMed=30500825; DOI=10.1371/journal.pgen.1007671;
RA Hiatt S.M., Neu M.B., Ramaker R.C., Hardigan A.A., Prokop J.W.,
RA Hancarova M., Prchalova D., Havlovicova M., Prchal J., Stranecky V.,
RA Yim D.K.C., Powis Z., Keren B., Nava C., Mignot C., Rio M.,
RA Revah-Politi A., Hemati P., Stong N., Iglesias A.D., Suchy S.F.,
RA Willaert R., Wentzensen I.M., Wheeler P.G., Brick L., Kozenko M.,
RA Hurst A.C.E., Wheless J.W., Lacassie Y., Myers R.M., Barsh G.S.,
RA Sedlacek Z., Cooper G.M.;
RT "De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small
RT GTPase, cause intellectual disability and developmental delay.";
RL PLoS Genet. 14:e1007671-e1007671(2018).
CC -!- FUNCTION: Mediates the voltage-dependent sodium ion permeability of
CC excitable membranes. Assuming opened or closed conformations in
CC response to the voltage difference across the membrane, the protein
CC forms a sodium-selective channel through which Na(+) ions may pass in
CC accordance with their electrochemical gradient. Plays a key role in
CC brain, probably by regulating the moment when neurotransmitters are
CC released in neurons. Involved in sensory perception of mechanical pain:
CC activation in somatosensory neurons induces pain without neurogenic
CC inflammation and produces hypersensitivity to mechanical, but not
CC thermal stimuli. {ECO:0000250|UniProtKB:A2APX8}.
CC -!- ACTIVITY REGULATION: Inactivation of this channel is specifically
CC inhibited by the spider toxins Hm1a and Hm1b (H.maculata, AC P60992 and
CC AC P0DOC5) in somatosensory neurons to elicit acute pain and mechanical
CC allodynia. {ECO:0000250|UniProtKB:A2APX8}.
CC -!- SUBUNIT: The voltage-sensitive sodium channel consists of an ion
CC conducting pore forming alpha-subunit regulated by one or more beta-1
CC (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4 (SCN4B). Beta-1
CC (SCN1B) and beta-3 (SCN3B) are non-covalently associated with alpha,
CC while beta-2 (SCN2B) and beta-4 (SCN4B) are covalently linked by
CC disulfide bonds. Interacts with FGF13 (PubMed:21566136). Interacts with
CC SCN1B (PubMed:17928445, PubMed:15525788). Interacts with the conotoxin
CC GVIIJ (PubMed:24497506). Interacts with the spider beta/delta-
CC theraphotoxin-Pre1a (PubMed:28428547). {ECO:0000269|PubMed:15525788,
CC ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:21566136,
CC ECO:0000269|PubMed:24497506, ECO:0000269|PubMed:28428547}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17928445};
CC Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P35498-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P35498-2; Sequence=VSP_001031;
CC Name=3;
CC IsoId=P35498-3; Sequence=VSP_045399;
CC -!- DOMAIN: The sequence contains 4 internal repeats, each with 5
CC hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged
CC segment (S4). Segments S4 are probably the voltage-sensors and are
CC characterized by a series of positively charged amino acids at every
CC third position. {ECO:0000305}.
CC -!- DOMAIN: The S3b-S4 and S1-S2 loops of repeat IV are targeted by
CC H.maculata toxins Hm1a and Hm1b, leading to inhibit fast inactivation
CC of Nav1.1/SCN1A. Selectivity for H.maculata toxins Hm1a and Hm1b
CC depends on S1-S2 loops of repeat IV. {ECO:0000250|UniProtKB:A2APX8}.
CC -!- PTM: Phosphorylation at Ser-1516 by PKC in a highly conserved
CC cytoplasmic loop slows inactivation of the sodium channel and reduces
CC peak sodium currents. {ECO:0000250|UniProtKB:P04775}.
CC -!- DISEASE: Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
CC [MIM:604403]: A rare autosomal dominant, familial condition with
CC incomplete penetrance and large intrafamilial variability. Patients
CC display febrile seizures persisting sometimes beyond the age of 6 years
CC and/or a variety of afebrile seizure types. This disease combines
CC febrile seizures, generalized seizures often precipitated by fever at
CC age 6 years or more, and partial seizures, with a variable degree of
CC severity. {ECO:0000269|PubMed:10742094, ECO:0000269|PubMed:11254444,
CC ECO:0000269|PubMed:11254445, ECO:0000269|PubMed:11524484,
CC ECO:0000269|PubMed:11756608, ECO:0000269|PubMed:12535936,
CC ECO:0000269|PubMed:12576172, ECO:0000269|PubMed:12919402,
CC ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:15525788,
CC ECO:0000269|PubMed:15694566, ECO:0000269|PubMed:15715999,
CC ECO:0000269|PubMed:16525050, ECO:0000269|PubMed:17347258,
CC ECO:0000269|PubMed:17507202, ECO:0000269|PubMed:17561957,
CC ECO:0000269|PubMed:17927801, ECO:0000269|PubMed:17928445,
CC ECO:0000269|PubMed:18251839, ECO:0000269|PubMed:18413471,
CC ECO:0000269|PubMed:18566737, ECO:0000269|PubMed:19339291,
CC ECO:0000269|PubMed:19464195, ECO:0000269|PubMed:19522081,
CC ECO:0000269|PubMed:20117752, ECO:0000269|PubMed:20550552,
CC ECO:0000269|PubMed:20600615, ECO:0000269|PubMed:20729507,
CC ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Dravet syndrome (DRVT) [MIM:607208]: A severe form of
CC epileptic encephalopathy characterized by generalized tonic, clonic,
CC and tonic-clonic seizures that are initially induced by fever and begin
CC during the first year of life. Later, patients also manifest other
CC seizure types, including absence, myoclonic, and simple and complex
CC partial seizures. Psychomotor development delay is observed around the
CC second year of life. Some patients manifest a borderline disease
CC phenotype and do not necessarily fulfill all diagnostic criteria for
CC core DRVT. DRVT is considered to be the most severe phenotype within
CC the spectrum of generalized epilepsies with febrile seizures-plus.
CC {ECO:0000269|PubMed:11359211, ECO:0000269|PubMed:12083760,
CC ECO:0000269|PubMed:12566275, ECO:0000269|PubMed:12754708,
CC ECO:0000269|PubMed:12821740, ECO:0000269|PubMed:14504318,
CC ECO:0000269|PubMed:14672992, ECO:0000269|PubMed:14738421,
CC ECO:0000269|PubMed:15087100, ECO:0000269|PubMed:15944908,
CC ECO:0000269|PubMed:16122630, ECO:0000269|PubMed:16458823,
CC ECO:0000269|PubMed:16713920, ECO:0000269|PubMed:17054684,
CC ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:17129991,
CC ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17561957,
CC ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18639757,
CC ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19522081,
CC ECO:0000269|PubMed:19563458, ECO:0000269|PubMed:19589774,
CC ECO:0000269|PubMed:19783390, ECO:0000269|PubMed:20110217,
CC ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:20452746,
CC ECO:0000269|PubMed:20522430, ECO:0000269|PubMed:20729507,
CC ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21555645,
CC ECO:0000269|PubMed:21753172, ECO:0000269|PubMed:21864321,
CC ECO:0000269|PubMed:22092154, ECO:0000269|PubMed:22612257,
CC ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23662938,
CC ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:25818041,
CC ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847,
CC ECO:0000269|PubMed:28544625}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Intractable childhood epilepsy with generalized tonic-clonic
CC seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized
CC tonic-clonic seizures beginning usually in infancy and induced by
CC fever. Seizures are associated with subsequent mental decline, as well
CC as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the
CC absence of myoclonic seizures. {ECO:0000269|PubMed:12566275,
CC ECO:0000269|PubMed:16210358, ECO:0000269|PubMed:17507202,
CC ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23708187}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A
CC subtype of migraine associated with transient blindness in some
CC families. Migraine is a disabling symptom complex of periodic
CC headaches, usually temporal and unilateral. Headaches are often
CC accompanied by irritability, nausea, vomiting and photophobia, preceded
CC by constriction of the cranial arteries. The two major subtypes are
CC common migraine (migraine without aura) and classic migraine (migraine
CC with aura). Classic migraine is characterized by recurrent attacks of
CC reversible neurological symptoms (aura) that precede or accompany the
CC headache. Aura may include a combination of sensory disturbances, such
CC as blurred vision, hallucinations, vertigo, numbness and difficulty in
CC concentrating and speaking. {ECO:0000269|PubMed:16054936,
CC ECO:0000269|PubMed:17397047, ECO:0000269|PubMed:18021921,
CC ECO:0000269|PubMed:19332696}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures
CC associated with febrile episodes in childhood without any evidence of
CC intracranial infection or defined pathologic or traumatic cause. It is
CC a common condition, affecting 2-5% of children aged 3 months to 5
CC years. The majority are simple febrile seizures (generally defined as
CC generalized onset, single seizures with a duration of less than 30
CC minutes). Complex febrile seizures are characterized by focal onset,
CC duration greater than 30 minutes, and/or more than one seizure in a 24
CC hour period. The likelihood of developing epilepsy following simple
CC febrile seizures is low. Complex febrile seizures are associated with a
CC moderately increased incidence of epilepsy.
CC {ECO:0000269|PubMed:16326807, ECO:0000269|PubMed:19522081}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Developmental and epileptic encephalopathy 6B (DEE6B)
CC [MIM:619317]: A form of epileptic encephalopathy, a heterogeneous group
CC of severe early-onset epilepsies characterized by refractory seizures,
CC neurodevelopmental impairment, and poor prognosis. Development is
CC normal prior to seizure onset, after which cognitive and motor delays
CC become apparent. DEE6B is an autosomal dominant condition characterized
CC by onset of seizures in early infancy, profoundly impaired intellectual
CC development, and a hyperkinetic movement disorder.
CC {ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:24776920,
CC ECO:0000269|PubMed:28794249}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Note=SCN1A mutations may be involved in Panayiotopoulos
CC syndrome, a benign age-related focal seizure disorder occurring in
CC early and mid-childhood. It is characterized by seizures, often
CC prolonged, with predominantly autonomic symptoms, and by an
CC electroencephalogram that shows shifting and/or multiple foci, often
CC with occipital predominance. Autonomic seizures in Panayiotopoulos
CC syndrome consist of episodes of disturbed autonomic function with
CC emesis as the predominant symptom. Cardiorespiratory arrest is
CC exceptional. {ECO:0000269|PubMed:17679682, ECO:0000269|PubMed:19339291,
CC ECO:0000269|PubMed:19522081}.
CC -!- SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family.
CC Nav1.1/SCN1A subfamily. {ECO:0000305}.
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DR EMBL; AF225985; AAK00217.1; -; mRNA.
DR EMBL; AY043484; AAK95360.1; -; mRNA.
DR EMBL; AB093548; BAC21101.1; -; mRNA.
DR EMBL; AB093549; BAC21102.1; -; mRNA.
DR EMBL; AB098335; BAC45228.1; -; mRNA.
DR EMBL; AC010127; AAX81984.1; -; Genomic_DNA.
DR EMBL; S71446; AAB31605.1; -; Genomic_DNA.
DR EMBL; X65362; CAA46439.1; -; mRNA.
DR EMBL; M91803; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS33316.1; -. [P35498-2]
DR CCDS; CCDS54413.1; -. [P35498-1]
DR CCDS; CCDS54414.1; -. [P35498-3]
DR PIR; I52964; I52964.
DR PIR; S29184; S29184.
DR RefSeq; NP_001159435.1; NM_001165963.1. [P35498-1]
DR RefSeq; NP_001159436.1; NM_001165964.1. [P35498-3]
DR RefSeq; NP_001189364.1; NM_001202435.1. [P35498-1]
DR RefSeq; NP_008851.3; NM_006920.4. [P35498-2]
DR RefSeq; XP_011509904.1; XM_011511602.2.
DR RefSeq; XP_011509906.1; XM_011511604.2.
DR RefSeq; XP_011509908.1; XM_011511606.2.
DR RefSeq; XP_016860133.1; XM_017004644.1.
DR RefSeq; XP_016860134.1; XM_017004645.1.
DR RefSeq; XP_016860135.1; XM_017004646.1.
DR RefSeq; XP_016860136.1; XM_017004647.1.
DR RefSeq; XP_016860137.1; XM_017004648.1.
DR RefSeq; XP_016860138.1; XM_017004649.1.
DR RefSeq; XP_016860140.1; XM_017004651.1.
DR RefSeq; XP_016860141.1; XM_017004652.1.
DR PDB; 7DTD; EM; 3.30 A; A=1-2009.
DR PDBsum; 7DTD; -.
DR AlphaFoldDB; P35498; -.
DR SMR; P35498; -.
DR BioGRID; 112228; 8.
DR DIP; DIP-59851N; -.
DR IntAct; P35498; 6.
DR MINT; P35498; -.
DR STRING; 9606.ENSP00000303540; -.
DR BindingDB; P35498; -.
DR ChEMBL; CHEMBL1845; -.
DR DrugBank; DB09088; Amylocaine.
DR DrugBank; DB13746; Bioallethrin.
DR DrugBank; DB05541; Brivaracetam.
DR DrugBank; DB00564; Carbamazepine.
DR DrugBank; DB00907; Cocaine.
DR DrugBank; DB13269; Dichlorobenzyl alcohol.
DR DrugBank; DB13961; Fish oil.
DR DrugBank; DB00555; Lamotrigine.
DR DrugBank; DB01595; Nitrazepam.
DR DrugBank; DB00776; Oxcarbazepine.
DR DrugBank; DB11186; Pentoxyverine.
DR DrugBank; DB04930; Permethrin.
DR DrugBank; DB01121; Phenacemide.
DR DrugBank; DB01438; Phenazopyridine.
DR DrugBank; DB00252; Phenytoin.
DR DrugBank; DB09345; Pramocaine.
DR DrugBank; DB01069; Promethazine.
DR DrugBank; DB09342; Propoxycaine.
DR DrugBank; DB00243; Ranolazine.
DR DrugBank; DB09085; Tetracaine.
DR DrugBank; DB05232; Tetrodotoxin.
DR DrugBank; DB00273; Topiramate.
DR DrugBank; DB00313; Valproic acid.
DR DrugBank; DB00909; Zonisamide.
DR DrugCentral; P35498; -.
DR GuidetoPHARMACOLOGY; 578; -.
DR TCDB; 1.A.1.10.7; the voltage-gated ion channel (vic) superfamily.
DR GlyGen; P35498; 9 sites.
DR iPTMnet; P35498; -.
DR PhosphoSitePlus; P35498; -.
DR BioMuta; SCN1A; -.
DR DMDM; 12644229; -.
DR MassIVE; P35498; -.
DR PaxDb; P35498; -.
DR PeptideAtlas; P35498; -.
DR PRIDE; P35498; -.
DR ProteomicsDB; 20245; -.
DR ProteomicsDB; 55069; -. [P35498-1]
DR ProteomicsDB; 55070; -. [P35498-2]
DR ABCD; P35498; 3 sequenced antibodies.
DR Antibodypedia; 47608; 219 antibodies from 32 providers.
DR DNASU; 6323; -.
DR Ensembl; ENST00000303395.9; ENSP00000303540.4; ENSG00000144285.23. [P35498-1]
DR Ensembl; ENST00000375405.7; ENSP00000364554.3; ENSG00000144285.23. [P35498-2]
DR Ensembl; ENST00000409050.1; ENSP00000386312.1; ENSG00000144285.23. [P35498-3]
DR Ensembl; ENST00000635750.1; ENSP00000490799.1; ENSG00000144285.23. [P35498-2]
DR Ensembl; ENST00000637988.1; ENSP00000490780.1; ENSG00000144285.23. [P35498-2]
DR Ensembl; ENST00000674923.1; ENSP00000501589.1; ENSG00000144285.23. [P35498-1]
DR GeneID; 6323; -.
DR KEGG; hsa:6323; -.
DR MANE-Select; ENST00000674923.1; ENSP00000501589.1; NM_001165963.4; NP_001159435.1.
DR UCSC; uc061pes.1; human. [P35498-1]
DR CTD; 6323; -.
DR DisGeNET; 6323; -.
DR GeneCards; SCN1A; -.
DR GeneReviews; SCN1A; -.
DR HGNC; HGNC:10585; SCN1A.
DR HPA; ENSG00000144285; Tissue enriched (brain).
DR MalaCards; SCN1A; -.
DR MIM; 182389; gene.
DR MIM; 604403; phenotype.
DR MIM; 607208; phenotype.
DR MIM; 609634; phenotype.
DR MIM; 619317; phenotype.
DR neXtProt; NX_P35498; -.
DR OpenTargets; ENSG00000144285; -.
DR Orphanet; 33069; Dravet syndrome.
DR Orphanet; 569; Familial or sporadic hemiplegic migraine.
DR Orphanet; 36387; Generalized epilepsy with febrile seizures-plus.
DR Orphanet; 2382; Lennox-Gastaut syndrome.
DR Orphanet; 293181; Malignant migrating focal seizures of infancy.
DR Orphanet; 1942; Myoclonic-astatic epilepsy.
DR PharmGKB; PA301; -.
DR VEuPathDB; HostDB:ENSG00000144285; -.
DR eggNOG; KOG2301; Eukaryota.
DR GeneTree; ENSGT00940000154224; -.
DR HOGENOM; CLU_000540_5_0_1; -.
DR InParanoid; P35498; -.
DR OMA; KTELTMS; -.
DR OrthoDB; 56920at2759; -.
DR PhylomeDB; P35498; -.
DR TreeFam; TF323985; -.
DR PathwayCommons; P35498; -.
DR Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
DR Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
DR SignaLink; P35498; -.
DR SIGNOR; P35498; -.
DR BioGRID-ORCS; 6323; 8 hits in 1069 CRISPR screens.
DR ChiTaRS; SCN1A; human.
DR GeneWiki; Nav1.1; -.
DR GenomeRNAi; 6323; -.
DR Pharos; P35498; Tclin.
DR PRO; PR:P35498; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P35498; protein.
DR Bgee; ENSG00000144285; Expressed in Brodmann (1909) area 23 and 114 other tissues.
DR ExpressionAtlas; P35498; baseline and differential.
DR Genevisible; P35498; HS.
DR GO; GO:0030424; C:axon; IBA:GO_Central.
DR GO; GO:0043194; C:axon initial segment; IEA:Ensembl.
DR GO; GO:0014704; C:intercalated disc; IEA:Ensembl.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0033268; C:node of Ranvier; IEA:Ensembl.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0030315; C:T-tubule; IEA:Ensembl.
DR GO; GO:0001518; C:voltage-gated sodium channel complex; IBA:GO_Central.
DR GO; GO:0030018; C:Z disc; ISS:BHF-UCL.
DR GO; GO:0005244; F:voltage-gated ion channel activity; IEA:UniProtKB-KW.
DR GO; GO:0005248; F:voltage-gated sodium channel activity; ISS:UniProtKB.
DR GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
DR GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL.
DR GO; GO:0050966; P:detection of mechanical stimulus involved in sensory perception of pain; ISS:UniProtKB.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0086010; P:membrane depolarization during action potential; IBA:GO_Central.
DR GO; GO:0050884; P:neuromuscular process controlling posture; IEA:Ensembl.
DR GO; GO:0019228; P:neuronal action potential; IBA:GO_Central.
DR GO; GO:0019227; P:neuronal action potential propagation; IEA:Ensembl.
DR GO; GO:0034765; P:regulation of ion transmembrane transport; IEA:UniProtKB-KW.
DR GO; GO:0035725; P:sodium ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0006814; P:sodium ion transport; ISS:UniProtKB.
DR CDD; cd13433; Na_channel_gate; 1.
DR Gene3D; 1.20.120.350; -; 4.
DR InterPro; IPR005821; Ion_trans_dom.
DR InterPro; IPR008051; Na_channel_a1su.
DR InterPro; IPR001696; Na_channel_asu.
DR InterPro; IPR044564; Na_chnl_inactivation_gate.
DR InterPro; IPR010526; Na_trans_assoc.
DR InterPro; IPR024583; Na_trans_cytopl.
DR InterPro; IPR043203; VGCC_Ca_Na.
DR InterPro; IPR027359; Volt_channel_dom_sf.
DR PANTHER; PTHR10037; PTHR10037; 1.
DR Pfam; PF00520; Ion_trans; 4.
DR Pfam; PF06512; Na_trans_assoc; 1.
DR Pfam; PF11933; Na_trans_cytopl; 1.
DR PRINTS; PR00170; NACHANNEL.
DR PRINTS; PR01664; NACHANNEL1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Autism; Autism spectrum disorder;
KW Cell membrane; Disease variant; Disulfide bond; Epilepsy; Glycoprotein;
KW Ion channel; Ion transport; Membrane; Phosphoprotein; Reference proteome;
KW Repeat; Sodium; Sodium channel; Sodium transport; Transmembrane;
KW Transmembrane helix; Transport; Voltage-gated channel.
FT CHAIN 1..2009
FT /note="Sodium channel protein type 1 subunit alpha"
FT /id="PRO_0000048489"
FT TOPO_DOM 1..128
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 129..147
FT /note="Helical; Name=S1 of repeat I"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 148..154
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 155..175
FT /note="Helical; Name=S2 of repeat I"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 176..189
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 190..207
FT /note="Helical; Name=S3 of repeat I"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 208..213
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 214..230
FT /note="Helical; Name=S4 of repeat I"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 231..249
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 250..269
FT /note="Helical; Name=S5 of repeat I"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 270..367
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT INTRAMEM 368..392
FT /note="Pore-forming"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 393..399
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 400..420
FT /note="Helical; Name=S6 of repeat I"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 421..768
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 769..787
FT /note="Helical; Name=S1 of repeat II"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 788..798
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 799..818
FT /note="Helical; Name=S2 of repeat II"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 819..832
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 833..852
FT /note="Helical; Name=S3 of repeat II"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 853..854
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 855..872
FT /note="Helical; Name=S4 of repeat II"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 873..888
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 889..907
FT /note="Helical; Name=S5 of repeat II"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 908..936
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT INTRAMEM 937..957
FT /note="Pore-forming"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 958..970
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 971..991
FT /note="Helical; Name=S6 of repeat II"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 992..1219
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 1220..1237
FT /note="Helical; Name=S1 of repeat III"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1238..1250
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 1251..1269
FT /note="Helical; Name=S2 of repeat III"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1270..1283
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 1284..1302
FT /note="Helical; Name=S3 of repeat III"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1303..1310
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 1311..1329
FT /note="Helical; Name=S4 of repeat III"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1330..1346
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 1347..1366
FT /note="Helical; Name=S5 of repeat III"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1367..1418
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT INTRAMEM 1419..1440
FT /note="Pore-forming"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1441..1457
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 1458..1479
FT /note="Helical; Name=S6 of repeat III"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1480..1542
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 1543..1560
FT /note="Helical; Name=S1 of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1561..1571
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 1572..1590
FT /note="Helical; Name=S2 of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1591..1602
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 1603..1620
FT /note="Helical; Name=S3 of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1621..1633
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 1634..1650
FT /note="Helical; Name=S4 of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1651..1669
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 1670..1687
FT /note="Helical; Name=S5 of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1688..1709
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT INTRAMEM 1710..1732
FT /note="Pore-forming"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1733..1762
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 1763..1785
FT /note="Helical; Name=S6 of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT TOPO_DOM 1786..2009
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT REPEAT 110..454
FT /note="I"
FT /evidence="ECO:0000305"
FT REPEAT 750..1022
FT /note="II"
FT /evidence="ECO:0000305"
FT REPEAT 1200..1514
FT /note="III"
FT /evidence="ECO:0000305"
FT REPEAT 1523..1821
FT /note="IV"
FT /evidence="ECO:0000305"
FT DOMAIN 1915..1944
FT /note="IQ"
FT REGION 28..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 455..529
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 584..627
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1129..1163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1561..1571
FT /note="S1-S2 loop of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:A2APX8"
FT REGION 1619..1636
FT /note="S3b-S4 loop of repeat IV"
FT /evidence="ECO:0000250|UniProtKB:A2APX8"
FT REGION 1986..2009
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 28..52
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 455..489
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 506..529
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 584..620
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1990..2009
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 1574
FT /note="Key residue that permits the spider beta/delta-
FT theraphotoxin-Pre1a to inhibit fast inactivation of the
FT channel"
FT /evidence="ECO:0000269|PubMed:28428547"
FT MOD_RES 470
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P04774"
FT MOD_RES 523
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P04774"
FT MOD_RES 525
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P04774"
FT MOD_RES 550
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P04774"
FT MOD_RES 551
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2APX8"
FT MOD_RES 607
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P04774"
FT MOD_RES 730
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P04774"
FT MOD_RES 1516
FT /note="Phosphoserine; by PKC"
FT /evidence="ECO:0000250|UniProtKB:P04775"
FT CARBOHYD 211
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 284
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 295
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 301
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 306
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 338
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1378
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1392
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1403
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 277..345
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT DISULFID 919
FT /note="Interchain; with SCN2B or SCN4B"
FT /evidence="ECO:0000250|UniProtKB:P04775"
FT DISULFID 919
FT /note="Interchain; with the conotoxin GVIIJ (when the
FT channel is not linked to SCN2B or SCN4B; the bond to SCN2B
FT or SCN4B protects the channel from the inhibition by
FT toxin)"
FT /evidence="ECO:0000250|UniProtKB:P04775"
FT DISULFID 959..968
FT /evidence="ECO:0000250|UniProtKB:D0E0C2"
FT VAR_SEQ 654..681
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_045399"
FT VAR_SEQ 671..681
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2, ECO:0000303|Ref.3,
FT ECO:0000303|Ref.4"
FT /id="VSP_001031"
FT VARIANT 17
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073441"
FT VARIANT 27
FT /note="R -> T (in GEFS+2; dbSNP:rs121917906)"
FT /evidence="ECO:0000269|PubMed:20729507"
FT /id="VAR_064229"
FT VARIANT 45
FT /note="D -> N (found in a patient with an unclassified form
FT of epilepsy; also found in a patient with epilepsy-aphasia
FT and febrile seizures plus; unknown pathological
FT significance; dbSNP:rs531894715)"
FT /evidence="ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23708187"
FT /id="VAR_073442"
FT VARIANT 58
FT /note="G -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073443"
FT VARIANT 61
FT /note="L -> F (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073444"
FT VARIANT 63
FT /note="F -> L (in DRVT; dbSNP:rs121917907)"
FT /evidence="ECO:0000269|PubMed:20729507"
FT /id="VAR_064230"
FT VARIANT 68
FT /note="I -> T (in DRVT; borderline phenotype;
FT dbSNP:rs758871507)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073445"
FT VARIANT 74
FT /note="S -> P (in GEFS+2; dbSNP:rs121917931)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064295"
FT VARIANT 78
FT /note="E -> D (in DRVT; dbSNP:rs121917933)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684"
FT /id="VAR_029660"
FT VARIANT 79
FT /note="D -> H (in DRVT; borderline phenotype;
FT dbSNP:rs121917982)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:18930999"
FT /id="VAR_064346"
FT VARIANT 79
FT /note="D -> N (in DRVT; dbSNP:rs121917982)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073446"
FT VARIANT 84
FT /note="Y -> C (in DRVT; dbSNP:rs121917964)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:27864847"
FT /id="VAR_043349"
FT VARIANT 90
FT /note="F -> S (in DRVT and ICEGTC; dbSNP:rs121918733)"
FT /evidence="ECO:0000269|PubMed:20431604,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_064231"
FT VARIANT 91
FT /note="I -> T (in DRVT; dbSNP:rs121918734)"
FT /evidence="ECO:0000269|PubMed:20431604"
FT /id="VAR_064232"
FT VARIANT 98
FT /note="A -> P (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073447"
FT VARIANT 101
FT /note="R -> Q (in DRVT and ICEGTC; dbSNP:rs121917918)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:20431604,
FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492,
FT ECO:0000269|PubMed:26993267"
FT /id="VAR_029661"
FT VARIANT 101
FT /note="R -> W (in DRVT; dbSNP:rs121917965)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:20431604,
FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492"
FT /id="VAR_064233"
FT VARIANT 103
FT /note="S -> G (in DRVT; dbSNP:rs121918743)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029662"
FT VARIANT 105
FT /note="T -> I (in DRVT; dbSNP:rs796053089)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073448"
FT VARIANT 108
FT /note="L -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073449"
FT VARIANT 112
FT /note="T -> I (in DRVT; dbSNP:rs121918745)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029663"
FT VARIANT 113
FT /note="P -> T (in DRVT; dbSNP:rs794726711)"
FT /evidence="ECO:0000269|PubMed:25818041"
FT /id="VAR_078725"
FT VARIANT 118
FT /note="R -> S (in DRVT; dbSNP:rs121917959)"
FT /evidence="ECO:0000269|PubMed:18413471"
FT /id="VAR_043350"
FT VARIANT 124
FT /note="I -> N (in DRVT; dbSNP:rs121918761)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20522430"
FT /id="VAR_064234"
FT VARIANT 127
FT /note="H -> D (in DRVT; borderline phenotype;
FT dbSNP:rs148442069)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073450"
FT VARIANT 145
FT /note="M -> T (in FEB3A; loss of function;
FT dbSNP:rs121918631)"
FT /evidence="ECO:0000269|PubMed:16326807"
FT /id="VAR_025366"
FT VARIANT 162
FT /note="T -> P (in DRVT; dbSNP:rs121917934)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064296"
FT VARIANT 171
FT /note="I -> K (in DRVT; dbSNP:rs121918766)"
FT /evidence="ECO:0000269|PubMed:19589774"
FT /id="VAR_064235"
FT VARIANT 171
FT /note="I -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073451"
FT VARIANT 175
FT /note="A -> T (in DRVT; dbSNP:rs121918767)"
FT /evidence="ECO:0000269|PubMed:19589774"
FT /id="VAR_064236"
FT VARIANT 175
FT /note="A -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073452"
FT VARIANT 177
FT /note="G -> E (in DRVT; results in a non-functional
FT channel; dbSNP:rs121918770)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054685"
FT /id="VAR_029664"
FT VARIANT 178
FT /note="F -> S (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073453"
FT VARIANT 179
FT /note="C -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073454"
FT VARIANT 187
FT /note="R -> Q (found in a child with developmental
FT disabilities; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:30500825"
FT /id="VAR_085768"
FT VARIANT 188
FT /note="D -> V (in GEFS+2; results in increased membrane
FT excitability as suggested by increased resistance to
FT cumulative inactivation during high frequency activation;
FT dbSNP:rs121917953)"
FT /evidence="ECO:0000269|PubMed:11254444,
FT ECO:0000269|PubMed:12576172"
FT /id="VAR_014267"
FT VARIANT 190
FT /note="W -> R (in DRVT; dbSNP:rs121918773)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029665"
FT VARIANT 191
FT /note="N -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073455"
FT VARIANT 191
FT /note="N -> Y (in DRVT; dbSNP:rs121918762)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20522430"
FT /id="VAR_064237"
FT VARIANT 194
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073456"
FT VARIANT 194
FT /note="D -> N (in DRVT; dbSNP:rs121917935)"
FT /evidence="ECO:0000269|PubMed:17054684,
FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:23662938,
FT ECO:0000269|PubMed:27864847"
FT /id="VAR_064238"
FT VARIANT 199
FT /note="T -> R (in DRVT; borderline phenotype with spike
FT wave activity; dbSNP:rs121917983)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064347"
FT VARIANT 217
FT /note="T -> K (in DRVT; dbSNP:rs121917936)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064297"
FT VARIANT 218
FT /note="F -> L (in GEFS+2; also found in patients with
FT Panayiotopoulos syndrome; dbSNP:rs970867558)"
FT /evidence="ECO:0000269|PubMed:19339291,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_073457"
FT VARIANT 222..2009
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:11359211"
FT /id="VAR_085926"
FT VARIANT 223
FT /note="A -> E (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073458"
FT VARIANT 226
FT /note="T -> M (in DEE6B; dbSNP:rs121917984)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:28794249"
FT /id="VAR_043351"
FT VARIANT 226
FT /note="T -> R (in DRVT; dbSNP:rs121917984)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073459"
FT VARIANT 227
FT /note="I -> S (in DRVT; borderline phenotype with spike
FT wave activity in some patients; results in a non-functional
FT channel; dbSNP:rs121917937)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19589774,
FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492"
FT /id="VAR_029666"
FT VARIANT 227
FT /note="I -> T (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073460"
FT VARIANT 228
FT /note="S -> P (in DRVT; dbSNP:rs1057519530)"
FT /evidence="ECO:0000269|PubMed:27864847"
FT /id="VAR_078192"
FT VARIANT 232
FT /note="G -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_073461"
FT VARIANT 233
FT /note="L -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073462"
FT VARIANT 239
FT /note="A -> T (in DRVT; borderline phenotype with spike
FT wave activity in some patients; dbSNP:rs121917985)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:20431604"
FT /id="VAR_043352"
FT VARIANT 239
FT /note="A -> V (in DRVT; dbSNP:rs121917909)"
FT /evidence="ECO:0000269|PubMed:20729507"
FT /id="VAR_064239"
FT VARIANT 243
FT /note="S -> Y (in DRVT; dbSNP:rs794726755)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073463"
FT VARIANT 252
FT /note="I -> M (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073464"
FT VARIANT 252
FT /note="I -> N (in DRVT; dbSNP:rs121918780)"
FT /evidence="ECO:0000269|PubMed:15087100"
FT /id="VAR_029667"
FT VARIANT 254
FT /note="T -> I (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073465"
FT VARIANT 259
FT /note="S -> R (in DRVT; dbSNP:rs121918735)"
FT /evidence="ECO:0000269|PubMed:20431604,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_064240"
FT VARIANT 265
FT /note="G -> W (in DRVT; dbSNP:rs121918749)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029668"
FT VARIANT 277
FT /note="C -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073466"
FT VARIANT 280
FT /note="W -> C (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18639757"
FT /id="VAR_073467"
FT VARIANT 280
FT /note="W -> R (in DRVT; dbSNP:rs121917938)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:23195492"
FT /id="VAR_029669"
FT VARIANT 281
FT /note="P -> A (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073468"
FT VARIANT 281
FT /note="P -> L (in DRVT; dbSNP:rs796052964)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073469"
FT VARIANT 281
FT /note="P -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073470"
FT VARIANT 289
FT /note="E -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:22612257"
FT /id="VAR_072743"
FT VARIANT 290
FT /note="H -> R (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073471"
FT VARIANT 291
FT /note="S -> G (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073472"
FT VARIANT 297
FT /note="T -> I (in DRVT; dbSNP:rs121918771)"
FT /evidence="ECO:0000269|PubMed:12821740"
FT /id="VAR_029670"
FT VARIANT 322
FT /note="R -> I (in DRVT; dbSNP:rs121917928)"
FT /evidence="ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:18930999"
FT /id="VAR_064298"
FT VARIANT 333
FT /note="A -> V"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073473"
FT VARIANT 340
FT /note="S -> F (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073474"
FT VARIANT 342
FT /note="A -> V (in DRVT; dbSNP:rs794726797)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073475"
FT VARIANT 343
FT /note="G -> D (in DRVT; dbSNP:rs121918753)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271"
FT /id="VAR_029671"
FT VARIANT 345
FT /note="C -> R (in DRVT; dbSNP:rs794726782)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073476"
FT VARIANT 351
FT /note="C -> W (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073477"
FT VARIANT 355
FT /note="G -> D (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073478"
FT VARIANT 356
FT /note="R -> G (in DRVT; dbSNP:rs121917920)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064299"
FT VARIANT 357
FT /note="N -> I (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073479"
FT VARIANT 358
FT /note="P -> T (in DRVT; dbSNP:rs121917923)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064300"
FT VARIANT 359
FT /note="N -> S (in DRVT and ICEGTC; dbSNP:rs794726713)"
FT /evidence="ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23708187"
FT /id="VAR_073480"
FT VARIANT 363
FT /note="T -> P (in DRVT; dbSNP:rs1131691465)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073481"
FT VARIANT 363
FT /note="T -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073482"
FT VARIANT 366
FT /note="D -> E (in DRVT; dbSNP:rs121917958)"
FT /evidence="ECO:0000269|PubMed:18413471"
FT /id="VAR_043353"
FT VARIANT 377
FT /note="R -> Q (in GEFS+2; dbSNP:rs121917957)"
FT /evidence="ECO:0000269|PubMed:18413471"
FT /id="VAR_043354"
FT VARIANT 378
FT /note="L -> Q (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073483"
FT VARIANT 379
FT /note="M -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:22612257"
FT /id="VAR_072744"
FT VARIANT 382
FT /note="D -> N (probable disease-associated variant found in
FT a patient with an unclassified form of epilepsy)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073484"
FT VARIANT 383
FT /note="F -> L (in DRVT; dbSNP:rs121917939)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064301"
FT VARIANT 384
FT /note="W -> R (in DRVT; borderline phenotype;
FT dbSNP:rs1057523858)"
FT /evidence="ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073485"
FT VARIANT 388
FT /note="Y -> H (in GEFS+2; dbSNP:rs121918781)"
FT /evidence="ECO:0000269|PubMed:19464195"
FT /id="VAR_064241"
FT VARIANT 393
FT /note="R -> C (in DRVT; also in a patient with myoclonic
FT astatic epilepsy; dbSNP:rs121917929)"
FT /evidence="ECO:0000269|PubMed:17054684,
FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271"
FT /id="VAR_043355"
FT VARIANT 393
FT /note="R -> H (in DRVT and ICEGTC; results in a non-
FT functional channel; dbSNP:rs121917927)"
FT /evidence="ECO:0000269|PubMed:12754708,
FT ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23195492,
FT ECO:0000269|PubMed:28544625"
FT /id="VAR_029672"
FT VARIANT 393
FT /note="R -> S (in DRVT; dbSNP:rs121917929)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064302"
FT VARIANT 395
FT /note="A -> P (probable disease-associated variant found in
FT a patient with cryptogenic generalized epilepsy;
FT dbSNP:rs121917988)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_043356"
FT VARIANT 400
FT /note="M -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073486"
FT VARIANT 400
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073487"
FT VARIANT 403
FT /note="F -> L (in DRVT; dbSNP:rs121917966)"
FT /evidence="ECO:0000269|PubMed:16713920,
FT ECO:0000269|PubMed:17347258"
FT /id="VAR_064303"
FT VARIANT 403
FT /note="F -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073488"
FT VARIANT 406
FT /note="V -> F (in DRVT; dbSNP:rs121918768)"
FT /evidence="ECO:0000269|PubMed:19589774,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064242"
FT VARIANT 409
FT /note="L -> W (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073489"
FT VARIANT 413
FT /note="Y -> N (in DRVT; dbSNP:rs121917967)"
FT /evidence="ECO:0000269|PubMed:16713920,
FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:19589774"
FT /id="VAR_064243"
FT VARIANT 422
FT /note="V -> E (probable disease-associated variant found in
FT a patient with cryptogenic generalized epilepsy;
FT dbSNP:rs121917989)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_043357"
FT VARIANT 422
FT /note="V -> L (in DEE6B)"
FT /evidence="ECO:0000269|PubMed:24776920"
FT /id="VAR_085927"
FT VARIANT 426
FT /note="Y -> C (in DRVT; dbSNP:rs796052973)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073490"
FT VARIANT 426
FT /note="Y -> N (in DRVT; results in decreased peak current
FT densities; causes a negative shift in the half-maximal
FT steady-state inactivation and delayed recovery from fast
FT inactivation; dbSNP:rs121917940)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:17054685"
FT /id="VAR_029673"
FT VARIANT 450..2009
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:25818041"
FT /id="VAR_078726"
FT VARIANT 525
FT /note="S -> F (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073491"
FT VARIANT 542
FT /note="R -> Q (found in a patient with intractable epilepsy
FT and in a patient with generalized epilepsy with febril
FT seizures; also found in patients with autism; unknown
FT pathological significance; dbSNP:rs121918817)"
FT /evidence="ECO:0000269|PubMed:12610651,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:19522081,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029674"
FT VARIANT 604
FT /note="R -> H (in dbSNP:rs121918769)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:21248271"
FT /id="VAR_064244"
FT VARIANT 616
FT /note="E -> D (probable disease-associated variant found in
FT a patient with drug-resistant epilepsy and mild cognitive
FT impairment; dbSNP:rs1057519529)"
FT /evidence="ECO:0000269|PubMed:27864847"
FT /id="VAR_078193"
FT VARIANT 626
FT /note="S -> G (in DRVT; also found in a patient with
FT cryptogenic generalized epilepsy; dbSNP:rs121917990)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271"
FT /id="VAR_043358"
FT VARIANT 674
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_073492"
FT VARIANT 699
FT /note="V -> I (in dbSNP:rs1260934774)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073493"
FT VARIANT 762
FT /note="N -> D (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073494"
FT VARIANT 783
FT /note="L -> P (in DRVT; dbSNP:rs121917968)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774"
FT /id="VAR_064245"
FT VARIANT 785
FT /note="M -> T (in DRVT; dbSNP:rs796053095)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073495"
FT VARIANT 790
FT /note="Y -> C (in GEFS+2; dbSNP:rs121918782)"
FT /evidence="ECO:0000269|PubMed:12919402"
FT /id="VAR_029675"
FT VARIANT 790
FT /note="Y -> F (probable disease-associated variant found in
FT patients with Panayiotopoulos syndrome; dbSNP:rs121918782)"
FT /evidence="ECO:0000269|PubMed:17679682,
FT ECO:0000269|PubMed:19522081"
FT /id="VAR_073496"
FT VARIANT 808
FT /note="T -> S (in ICEGTC; results in increased peak current
FT density and delayed slow inactivation onset; recovery from
FT slow inactivation is delayed; dbSNP:rs121918758)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029676"
FT VARIANT 812
FT /note="T -> I (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073497"
FT VARIANT 812
FT /note="T -> R (in DRVT; dbSNP:rs121917941)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064304"
FT VARIANT 842
FT /note="L -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073498"
FT VARIANT 843
FT /note="S -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073499"
FT VARIANT 846
FT /note="E -> K (in DRVT; dbSNP:rs121917942)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064305"
FT VARIANT 854..855
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073500"
FT VARIANT 859
FT /note="R -> C (in GEFS+2 and DRVT; causes a positive shift
FT in the voltage dependence of channel activation, slower
FT recovery from slow inactivation and lower levels of current
FT compared with the wild-type channel; dbSNP:rs121918784)"
FT /evidence="ECO:0000269|PubMed:16525050,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271"
FT /id="VAR_064306"
FT VARIANT 859
FT /note="R -> H (in GEFS+2; results in impaired channel fast
FT inactivation and significantly increased persistent
FT current; dbSNP:rs398123588)"
FT /evidence="ECO:0000269|PubMed:21864321"
FT /id="VAR_073501"
FT VARIANT 862
FT /note="R -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21753172"
FT /id="VAR_085928"
FT VARIANT 862
FT /note="R -> Q (in DRVT; dbSNP:rs121918785)"
FT /evidence="ECO:0000269|PubMed:20110217,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064246"
FT VARIANT 865
FT /note="R -> G (in DRVT; results in impaired channel fast
FT inactivation and significantly increased persistent
FT current)"
FT /evidence="ECO:0000269|PubMed:21864321"
FT /id="VAR_073502"
FT VARIANT 875
FT /note="T -> K (in DRVT; dbSNP:rs121918623)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20522430"
FT /id="VAR_064247"
FT VARIANT 875
FT /note="T -> M (in GEFS+2 and DRVT; borderline phenotype;
FT dbSNP:rs121918623)"
FT /evidence="ECO:0000269|PubMed:10742094,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_010110"
FT VARIANT 876
FT /note="L -> I (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073503"
FT VARIANT 890
FT /note="L -> P (in DRVT; dbSNP:rs1553541473)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073504"
FT VARIANT 896
FT /note="V -> F (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073505"
FT VARIANT 896
FT /note="V -> I (in ICEGTC; dbSNP:rs745378416)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073506"
FT VARIANT 896
FT /note="V -> L (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073507"
FT VARIANT 899
FT /note="I -> T (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:19522081"
FT /id="VAR_073508"
FT VARIANT 902
FT /note="F -> C (in DRVT; dbSNP:rs121918787)"
FT /evidence="ECO:0000269|PubMed:12083760"
FT /id="VAR_029677"
FT VARIANT 924
FT /note="A -> T (in dbSNP:rs141950573)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_073509"
FT VARIANT 927
FT /note="C -> F (in DRVT; dbSNP:rs794726811)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073510"
FT VARIANT 931
FT /note="R -> C (in DRVT; dbSNP:rs121918788)"
FT /evidence="ECO:0000269|PubMed:12083760,
FT ECO:0000269|PubMed:18930999"
FT /id="VAR_029678"
FT VARIANT 931
FT /note="R -> H (probable disease-associated variant found in
FT a patient with an unclassified form of epilepsy;
FT dbSNP:rs794726718)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073511"
FT VARIANT 932
FT /note="W -> C (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073512"
FT VARIANT 933
FT /note="H -> P (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073513"
FT VARIANT 934
FT /note="M -> I (in DRVT; dbSNP:rs121918774)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:23195492"
FT /id="VAR_029679"
FT VARIANT 935
FT /note="N -> H (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:18566737"
FT /id="VAR_073514"
FT VARIANT 939
FT /note="H -> P (in DRVT; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073515"
FT VARIANT 939
FT /note="H -> Q (in DRVT; results in a non-functional
FT channel; dbSNP:rs121918795)"
FT /evidence="ECO:0000269|PubMed:12754708,
FT ECO:0000269|PubMed:17054685"
FT /id="VAR_029680"
FT VARIANT 939
FT /note="H -> Y (in DRVT; dbSNP:rs121918736)"
FT /evidence="ECO:0000269|PubMed:20431604"
FT /id="VAR_064248"
FT VARIANT 940
FT /note="S -> F (in DRVT; dbSNP:rs1057521080)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073516"
FT VARIANT 942
FT /note="L -> P (in DRVT; dbSNP:rs121917943)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064307"
FT VARIANT 943
FT /note="I -> N (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073517"
FT VARIANT 944
FT /note="V -> A (in DRVT and ICEGTC; dbSNP:rs121917969)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029681"
FT VARIANT 944
FT /note="V -> E (in DRVT)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774"
FT /id="VAR_064249"
FT VARIANT 945
FT /note="F -> L (in DRVT; dbSNP:rs121917970)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774"
FT /id="VAR_064250"
FT VARIANT 946
FT /note="R -> C (in DRVT; loss-of-function mutation resulting
FT in complete absence of sodium current; dbSNP:rs121918775)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:21864321,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029682"
FT VARIANT 946
FT /note="R -> H (in DRVT and GEFS+2; GEFS+2 phenotype
FT consists of partial epilepsy with antecedent febrile
FT seizures and seizure aggravation by antiepileptic drugs;
FT loss-of-function mutation resulting in complete absence of
FT sodium current; dbSNP:rs121917971)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:16713920, ECO:0000269|PubMed:19589774,
FT ECO:0000269|PubMed:20550552, ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:21864321, ECO:0000269|PubMed:23195492"
FT /id="VAR_029683"
FT VARIANT 946
FT /note="R -> S (in DRVT; dbSNP:rs121918775)"
FT /evidence="ECO:0000269|PubMed:15944908"
FT /id="VAR_057995"
FT VARIANT 949
FT /note="C -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073518"
FT VARIANT 949
FT /note="C -> Y (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073519"
FT VARIANT 950
FT /note="G -> E (in DRVT; dbSNP:rs121917972)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774"
FT /id="VAR_064251"
FT VARIANT 950
FT /note="G -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073520"
FT VARIANT 952
FT /note="W -> G (in DRVT; dbSNP:rs121918737)"
FT /evidence="ECO:0000269|PubMed:20431604"
FT /id="VAR_064252"
FT VARIANT 954
FT /note="E -> K (in DRVT; dbSNP:rs121918786)"
FT /evidence="ECO:0000269|PubMed:20110217,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064253"
FT VARIANT 956
FT /note="M -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073521"
FT VARIANT 957
FT /note="W -> L (in DRVT; dbSNP:rs121917917)"
FT /evidence="ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064308"
FT VARIANT 959
FT /note="C -> R (in DRVT; results in a non-functional
FT channel; dbSNP:rs121918796)"
FT /evidence="ECO:0000269|PubMed:12754708,
FT ECO:0000269|PubMed:17054685"
FT /id="VAR_029684"
FT VARIANT 960
FT /note="M -> T (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073522"
FT VARIANT 960
FT /note="M -> V (in DRVT; dbSNP:rs121918750)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029685"
FT VARIANT 973
FT /note="M -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073523"
FT VARIANT 973
FT /note="M -> V (in GEFS+2; dbSNP:rs121917991)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_043359"
FT VARIANT 976
FT /note="M -> I (in DRVT and GEFS+2)"
FT /evidence="ECO:0000269|PubMed:19522081,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_073524"
FT VARIANT 978
FT /note="I -> M (in GEFS+2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:17927801"
FT /id="VAR_073525"
FT VARIANT 979
FT /note="G -> R (in ICEGTC; loss-of-function mutation
FT resulting in absence of sodium current; dbSNP:rs121918754)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029686"
FT VARIANT 979
FT /note="G -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073526"
FT VARIANT 982
FT /note="V -> L (found in a patient with acute encephalopathy
FT with biphasic seizures and late reduced diffusion; unknown
FT pathological significance)"
FT /evidence="ECO:0000269|PubMed:22309220,
FT ECO:0000269|PubMed:26311622"
FT /id="VAR_075569"
FT VARIANT 983
FT /note="V -> A (in ICEGTC; reduced function; decreased peak
FT current density; results in a negative shift of
FT inactivation and positive shift of activation;
FT dbSNP:rs121918756)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029687"
FT VARIANT 985
FT /note="N -> I (in DRVT; dbSNP:rs121918747)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029688"
FT VARIANT 986
FT /note="L -> F (in DRVT; complete loss of function;
FT dbSNP:rs121918625)"
FT /evidence="ECO:0000269|PubMed:11359211,
FT ECO:0000269|PubMed:14672992"
FT /id="VAR_014268"
FT VARIANT 986
FT /note="L -> P (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073527"
FT VARIANT 987
FT /note="F -> L (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073528"
FT VARIANT 993
FT /note="S -> R (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073529"
FT VARIANT 998
FT /note="D -> G (in DRVT; dbSNP:rs1484321812)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073530"
FT VARIANT 999..1000
FT /note="NL -> LIS (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073531"
FT VARIANT 1006
FT /note="D -> E (probable disease-associated variant found in
FT a patient with an unclassified form of epilepsy;
FT dbSNP:rs375909896)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073532"
FT VARIANT 1011
FT /note="N -> I (in ICEGTC; results in reduced peak current
FT density and hyperpolarizing shift in inactivation;
FT dbSNP:rs121918759)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029689"
FT VARIANT 1034
FT /note="I -> T (associated with autism; dbSNP:rs121918818)"
FT /evidence="ECO:0000269|PubMed:12610651"
FT /id="VAR_029690"
FT VARIANT 1038
FT /note="F -> L (associated with autism)"
FT /evidence="ECO:0000269|PubMed:12610651"
FT /id="VAR_029691"
FT VARIANT 1067
FT /note="A -> T (in dbSNP:rs2298771)"
FT /evidence="ECO:0000269|PubMed:11254444,
FT ECO:0000269|PubMed:12083760, ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:12610651, ECO:0000269|PubMed:16122630,
FT ECO:0000269|PubMed:19694741, ECO:0000269|PubMed:20682179,
FT ECO:0000269|Ref.4"
FT /id="VAR_014269"
FT VARIANT 1068
FT /note="E -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073533"
FT VARIANT 1079
FT /note="V -> I"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_073534"
FT VARIANT 1109
FT /note="P -> T (in dbSNP:rs753452775)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_073535"
FT VARIANT 1174
FT /note="T -> S (in FHM3; dbSNP:rs121918799)"
FT /evidence="ECO:0000269|PubMed:18021921"
FT /id="VAR_064309"
FT VARIANT 1204
FT /note="W -> R (in GEFS+2; causes hyperpolarized shifts in
FT the voltage dependence of activation and steady-state
FT inactivation; dbSNP:rs121917930)"
FT /evidence="ECO:0000269|PubMed:11254445,
FT ECO:0000269|PubMed:12535936, ECO:0000269|PubMed:17561957"
FT /id="VAR_014270"
FT VARIANT 1204
FT /note="W -> S (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073536"
FT VARIANT 1207
FT /note="L -> P (in DRVT; dbSNP:rs121917963)"
FT /evidence="ECO:0000269|PubMed:18413471"
FT /id="VAR_043360"
FT VARIANT 1208
FT /note="R -> K (in DRVT; dbSNP:rs1559149025)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073537"
FT VARIANT 1210
FT /note="T -> K (in DRVT; dbSNP:rs121918738)"
FT /evidence="ECO:0000269|PubMed:20431604"
FT /id="VAR_064254"
FT VARIANT 1213
FT /note="R -> Q (in ICEGTC; dbSNP:rs566081370)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073538"
FT VARIANT 1221
FT /note="E -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073539"
FT VARIANT 1230
FT /note="L -> F (in DRVT and GEFS+2)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073540"
FT VARIANT 1231
FT /note="S -> R (in DRVT; dbSNP:rs121918746)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029692"
FT VARIANT 1231
FT /note="S -> T (in DRVT; dbSNP:rs121918800)"
FT /evidence="ECO:0000269|PubMed:16458823"
FT /id="VAR_064310"
FT VARIANT 1233
FT /note="G -> R (in DRVT; dbSNP:rs121917911)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684"
FT /id="VAR_029693"
FT VARIANT 1238
FT /note="E -> D (in DRVT; dbSNP:rs121917973)"
FT /evidence="ECO:0000269|PubMed:16713920,
FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23662938"
FT /id="VAR_043361"
FT VARIANT 1239
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073541"
FT VARIANT 1239
FT /note="D -> Y (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073542"
FT VARIANT 1245
FT /note="R -> Q (in DRVT; dbSNP:rs121917912)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064311"
FT VARIANT 1249
FT /note="K -> N (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:19522081"
FT /id="VAR_073543"
FT VARIANT 1250
FT /note="T -> M (in GEFS+2; dbSNP:rs140731963)"
FT /evidence="ECO:0000269|PubMed:19522081"
FT /id="VAR_073544"
FT VARIANT 1254
FT /note="Y -> C (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073545"
FT VARIANT 1255
FT /note="A -> D (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073546"
FT VARIANT 1260
FT /note="T -> P (in DRVT; dbSNP:rs121918739)"
FT /evidence="ECO:0000269|PubMed:20431604"
FT /id="VAR_064255"
FT VARIANT 1263
FT /note="F -> L (in DRVT; dbSNP:rs121918752)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029694"
FT VARIANT 1265
FT /note="L -> P (in DRVT; dbSNP:rs121918794)"
FT /evidence="ECO:0000269|PubMed:12083760"
FT /id="VAR_029695"
FT VARIANT 1266
FT /note="E -> A (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073547"
FT VARIANT 1270
FT /note="K -> T (in GEFS+2; dbSNP:rs121918626)"
FT /evidence="ECO:0000269|PubMed:11756608"
FT /id="VAR_014271"
FT VARIANT 1275
FT /note="G -> A (found in a child with sporadic epilepsy;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:23647072"
FT /id="VAR_077831"
FT VARIANT 1275
FT /note="G -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073548"
FT VARIANT 1284..2009
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:26993267"
FT /id="VAR_078727"
FT VARIANT 1284
FT /note="W -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073549"
FT VARIANT 1287
FT /note="L -> P (in DRVT; dbSNP:rs121918740)"
FT /evidence="ECO:0000269|PubMed:20431604"
FT /id="VAR_064256"
FT VARIANT 1288
FT /note="D -> N (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073550"
FT VARIANT 1289
FT /note="Missing (in DRVT; results in a non-functional
FT channel)"
FT /evidence="ECO:0000269|PubMed:12083760,
FT ECO:0000269|PubMed:17054685, ECO:0000269|PubMed:18930999"
FT /id="VAR_029696"
FT VARIANT 1308
FT /note="E -> D (in FEB3A; also found in patients with early
FT infantile epileptic encephalopathy; unknown pathological
FT significance; dbSNP:rs121917910)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:20729507,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064257"
FT VARIANT 1309
FT /note="L -> F (in GEFS+2; dbSNP:rs121918801)"
FT /evidence="ECO:0000269|PubMed:20117752"
FT /id="VAR_064258"
FT VARIANT 1316
FT /note="R -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073551"
FT VARIANT 1316
FT /note="R -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073552"
FT VARIANT 1320
FT /note="A -> V (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073553"
FT VARIANT 1325
FT /note="R -> T (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073554"
FT VARIANT 1326
FT /note="A -> D (probable disease-associated variant found in
FT a patient with an unclassified form of epilepsy)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073555"
FT VARIANT 1326
FT /note="A -> P (in DRVT; dbSNP:rs121918803)"
FT /evidence="ECO:0000269|PubMed:14504318,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_029698"
FT VARIANT 1328
FT /note="S -> P (in ICEGTC and DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073556"
FT VARIANT 1335
FT /note="V -> M (in DRVT; dbSNP:rs121917960)"
FT /evidence="ECO:0000269|PubMed:18413471,
FT ECO:0000269|PubMed:20431604"
FT /id="VAR_043362"
FT VARIANT 1339
FT /note="A -> V (in DRVT; dbSNP:rs794726789)"
FT /evidence="ECO:0000269|PubMed:22092154,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073557"
FT VARIANT 1344
FT /note="I -> M (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073558"
FT VARIANT 1345
FT /note="P -> L (in DRVT)"
FT /evidence="ECO:0000269|PubMed:26993267"
FT /id="VAR_078728"
FT VARIANT 1345
FT /note="P -> S (in DEE6B)"
FT /evidence="ECO:0000269|PubMed:28794249"
FT /id="VAR_085929"
FT VARIANT 1350
FT /note="V -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073559"
FT VARIANT 1353
FT /note="V -> L (in GEFS+2; complete loss of function;
FT dbSNP:rs121917954)"
FT /evidence="ECO:0000269|PubMed:11254444,
FT ECO:0000269|PubMed:14672992"
FT /id="VAR_014272"
FT VARIANT 1355
FT /note="L -> P (in DRVT; dbSNP:rs121918776)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029697"
FT VARIANT 1357
FT /note="F -> L (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073560"
FT VARIANT 1358
FT /note="W -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073561"
FT VARIANT 1358
FT /note="W -> S (in DRVT; dbSNP:rs121917961)"
FT /evidence="ECO:0000269|PubMed:18413471"
FT /id="VAR_043363"
FT VARIANT 1366
FT /note="V -> I (in GEFS+2 and ICEGTC; dbSNP:rs121918805)"
FT /evidence="ECO:0000269|PubMed:17507202"
FT /id="VAR_043364"
FT VARIANT 1367
FT /note="N -> K (in DRVT; dbSNP:rs121918760)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20522430"
FT /id="VAR_064259"
FT VARIANT 1370
FT /note="A -> P (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073562"
FT VARIANT 1376
FT /note="C -> R (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073563"
FT VARIANT 1378
FT /note="N -> H (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073564"
FT VARIANT 1378
FT /note="N -> T (in DRVT; dbSNP:rs1131691775)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073565"
FT VARIANT 1385
FT /note="F -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073566"
FT VARIANT 1390
FT /note="V -> M (in DRVT; some patients have a borderline
FT DRVT phenotype; dbSNP:rs121917986)"
FT /evidence="ECO:0000269|PubMed:12083760,
FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:20431604"
FT /id="VAR_029699"
FT VARIANT 1391
FT /note="N -> S (in DRVT; dbSNP:rs1553525062)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073567"
FT VARIANT 1393
FT /note="H -> P (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:17129991"
FT /id="VAR_073568"
FT VARIANT 1394
FT /note="T -> I (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073569"
FT VARIANT 1396
FT /note="C -> G (in DRVT; some patients have a borderline
FT DRVT phenotype; dbSNP:rs121917987)"
FT /evidence="ECO:0000269|PubMed:16713920,
FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:19589774"
FT /id="VAR_064260"
FT VARIANT 1396
FT /note="C -> Y (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073570"
FT VARIANT 1414
FT /note="N -> D (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073571"
FT VARIANT 1414
FT /note="N -> Y (in DRVT; dbSNP:rs121917925)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064312"
FT VARIANT 1416
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073572"
FT VARIANT 1417
FT /note="N -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073573"
FT VARIANT 1418
FT /note="V -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073574"
FT VARIANT 1422
FT /note="Y -> C (in DRVT; dbSNP:rs121917913)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064313"
FT VARIANT 1423
FT /note="L -> F (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073575"
FT VARIANT 1426
FT /note="L -> R (in DRVT; dbSNP:rs121917944)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064314"
FT VARIANT 1427
FT /note="Q -> P (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073576"
FT VARIANT 1428
FT /note="V -> A (in GEFS+2; dbSNP:rs121918627)"
FT /evidence="ECO:0000269|PubMed:11524484"
FT /id="VAR_029700"
FT VARIANT 1429
FT /note="A -> D (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073577"
FT VARIANT 1429
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073578"
FT VARIANT 1431
FT /note="F -> I (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073579"
FT VARIANT 1433
FT /note="G -> E (in DRVT; dbSNP:rs121918741)"
FT /evidence="ECO:0000269|PubMed:20431604"
FT /id="VAR_064261"
FT VARIANT 1433
FT /note="G -> R (in DRVT; dbSNP:rs121917908)"
FT /evidence="ECO:0000269|PubMed:20729507"
FT /id="VAR_064262"
FT VARIANT 1433
FT /note="G -> V (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073580"
FT VARIANT 1434
FT /note="W -> R (in DRVT; dbSNP:rs121918789)"
FT /evidence="ECO:0000269|PubMed:12083760,
FT ECO:0000269|PubMed:12754708"
FT /id="VAR_029701"
FT VARIANT 1437
FT /note="I -> M (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073581"
FT VARIANT 1440
FT /note="A -> V (found in a patient with autism; unknown
FT pathological significance; dbSNP:rs1559122124)"
FT /evidence="ECO:0000269|PubMed:26637798"
FT /id="VAR_078729"
FT VARIANT 1441
FT /note="A -> P (in DRVT; dbSNP:rs121917974)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_064348"
FT VARIANT 1450
FT /note="Q -> K (in DRVT; dbSNP:rs121918806)"
FT /evidence="ECO:0000269|PubMed:19589774,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064263"
FT VARIANT 1450
FT /note="Q -> R (in DRVT; dbSNP:rs121918790)"
FT /evidence="ECO:0000269|PubMed:12083760"
FT /id="VAR_029702"
FT VARIANT 1451
FT /note="P -> L (in DRVT; dbSNP:rs121917945)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064315"
FT VARIANT 1451
FT /note="P -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073582"
FT VARIANT 1453
FT /note="Y -> C (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073583"
FT VARIANT 1454
FT /note="E -> K (in DRVT; dbSNP:rs1553522472)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073584"
FT VARIANT 1461
FT /note="L -> I (in DRVT; dbSNP:rs121918772)"
FT /evidence="ECO:0000269|PubMed:12821740"
FT /id="VAR_029703"
FT VARIANT 1462
FT /note="Y -> C (in DRVT; dbSNP:rs121917962)"
FT /evidence="ECO:0000269|PubMed:18413471"
FT /id="VAR_043365"
FT VARIANT 1462
FT /note="Y -> H (in DRVT and ICEGTC; borderline DRVT
FT phenotype; dbSNP:rs1559119345)"
FT /evidence="ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073585"
FT VARIANT 1463
FT /note="F -> S (in DRVT; dbSNP:rs121917946)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684"
FT /id="VAR_029704"
FT VARIANT 1470
FT /note="G -> W (in DRVT; dbSNP:rs121917924)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064316"
FT VARIANT 1472
FT /note="F -> S (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073586"
FT VARIANT 1473
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073587"
FT VARIANT 1475
FT /note="L -> S (in DRVT; dbSNP:rs121917947)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064317"
FT VARIANT 1476
FT /note="N -> K (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073588"
FT VARIANT 1480
FT /note="G -> V (probable disease-associated variant found in
FT a patient with myoclonic astatic epilepsy;
FT dbSNP:rs121917996)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_043366"
FT VARIANT 1483
FT /note="I -> M (probable disease-associated variant found in
FT a patient with an unclassified form of epilepsy)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073589"
FT VARIANT 1483
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073590"
FT VARIANT 1484
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073591"
FT VARIANT 1485
FT /note="N -> Y (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073592"
FT VARIANT 1489
FT /note="Q -> H (in FHM3; dbSNP:rs121918633)"
FT /evidence="ECO:0000269|PubMed:19332696"
FT /id="VAR_057996"
FT VARIANT 1489
FT /note="Q -> K (in FHM3; dbSNP:rs121918628)"
FT /evidence="ECO:0000269|PubMed:16054936"
FT /id="VAR_025281"
FT VARIANT 1499
FT /note="F -> L (in FHM3; dbSNP:rs121918632)"
FT /evidence="ECO:0000269|PubMed:19332696"
FT /id="VAR_057997"
FT VARIANT 1503
FT /note="E -> K (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:19783390,
FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:23195492"
FT /id="VAR_073593"
FT VARIANT 1503
FT /note="Missing (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073594"
FT VARIANT 1511
FT /note="M -> K (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073595"
FT VARIANT 1514
FT /note="L -> S (in DRVT; dbSNP:rs121918764)"
FT /evidence="ECO:0000269|PubMed:20522430"
FT /id="VAR_064264"
FT VARIANT 1538
FT /note="V -> I (in DRVT; dbSNP:rs780360360)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073596"
FT VARIANT 1543
FT /note="F -> S (in a patient with cryptogenic focal
FT epilepsy; dbSNP:rs121917992)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_043367"
FT VARIANT 1544
FT /note="D -> A (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073597"
FT VARIANT 1544
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073598"
FT VARIANT 1545
FT /note="I -> V (in DRVT; dbSNP:rs121917975)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:23195492"
FT /id="VAR_064265"
FT VARIANT 1555
FT /note="M -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073599"
FT VARIANT 1559
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:14738421"
FT /id="VAR_029705"
FT VARIANT 1561
FT /note="E -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073600"
FT VARIANT 1575
FT /note="R -> C (found in a patient with intractable epilepsy
FT and patients with Dravet syndrome; found in a patient with
FT acute necrotizing encephalopathy and also found in a
FT patient with acute encephalopathy with biphasic seizures
FT and late reduced diffusion; unknown pathological
FT significance; dbSNP:rs121918807)"
FT /evidence="ECO:0000269|PubMed:18031552,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:22309220,
FT ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:26311622"
FT /id="VAR_064318"
FT VARIANT 1579
FT /note="V -> E (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073601"
FT VARIANT 1586
FT /note="G -> E (in DRVT; dbSNP:rs121918742)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20431604, ECO:0000269|PubMed:21248271"
FT /id="VAR_064266"
FT VARIANT 1588
FT /note="C -> R (in DRVT; dbSNP:rs121917919)"
FT /evidence="ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:21248271, ECO:0000269|PubMed:25818041"
FT /id="VAR_064319"
FT VARIANT 1592
FT /note="L -> H (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073602"
FT VARIANT 1592
FT /note="L -> P (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073603"
FT VARIANT 1596
FT /note="R -> C (in DRVT; also found in a patient with
FT cryptogenic focal epilepsy; dbSNP:rs121917993)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:18930999"
FT /id="VAR_043368"
FT VARIANT 1596
FT /note="R -> H (in GEFS+2; dbSNP:rs575368466)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073604"
FT VARIANT 1596
FT /note="R -> L (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073605"
FT VARIANT 1605
FT /note="N -> I (in DRVT; dbSNP:rs1057519533)"
FT /evidence="ECO:0000269|PubMed:27864847"
FT /id="VAR_078194"
FT VARIANT 1605
FT /note="N -> S (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073606"
FT VARIANT 1608
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073607"
FT VARIANT 1608
FT /note="D -> Y (in DRVT; dbSNP:rs121917915)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064320"
FT VARIANT 1611
FT /note="V -> F (in ICEGTC; results in greater levels of
FT persistent non-inactivating current compared to wild-type;
FT dbSNP:rs121918630)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029706"
FT VARIANT 1612
FT /note="V -> I (in DRVT; dbSNP:rs121918808)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:19563458, ECO:0000269|PubMed:20452746"
FT /id="VAR_064267"
FT VARIANT 1619
FT /note="M -> V (in ICEGTC; dbSNP:rs373967247)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073608"
FT VARIANT 1630
FT /note="V -> L (in DRVT; borderline phenotype in some
FT patients; dbSNP:rs121917914)"
FT /evidence="ECO:0000269|PubMed:22092154,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073609"
FT VARIANT 1630
FT /note="V -> M (in DRVT; dbSNP:rs121917914)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064321"
FT VARIANT 1632
FT /note="P -> S (in ICEGTC; results in greater levels of
FT persistent non-inactivating current compared to wild-type;
FT dbSNP:rs121918755)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029707"
FT VARIANT 1636
FT /note="R -> Q (probable disease-associated variant found in
FT a patient with Lennon-Gastaut syndrome; dbSNP:rs121917995)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774"
FT /id="VAR_043369"
FT VARIANT 1637
FT /note="V -> E (in DRVT; also found in a child with febrile
FT status epilepticus who developed liver failure;
FT dbSNP:rs121918810)"
FT /evidence="ECO:0000269|PubMed:20392657,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064268"
FT VARIANT 1638
FT /note="I -> N (in DRVT; dbSNP:rs1057521079)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073610"
FT VARIANT 1638
FT /note="I -> T (in DRVT; also found in a patient with an
FT unclassified form of epilepsy)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073611"
FT VARIANT 1639
FT /note="R -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073612"
FT VARIANT 1642
FT /note="R -> S (in DRVT; dbSNP:rs1131691581)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073613"
FT VARIANT 1645
FT /note="R -> Q (in DRVT; dbSNP:rs121917976)"
FT /evidence="ECO:0000269|PubMed:16713920,
FT ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:19589774"
FT /id="VAR_064269"
FT VARIANT 1648
FT /note="R -> C (in DRVT; dbSNP:rs121918791)"
FT /evidence="ECO:0000269|PubMed:12083760,
FT ECO:0000269|PubMed:19522081, ECO:0000269|PubMed:21248271"
FT /id="VAR_029708"
FT VARIANT 1648
FT /note="R -> H (in GEFS+2 and DRVT; dbSNP:rs121918622)"
FT /evidence="ECO:0000269|PubMed:10742094,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:20522430"
FT /id="VAR_010111"
FT VARIANT 1649
FT /note="L -> Q (in FHM3)"
FT /evidence="ECO:0000269|PubMed:17397047"
FT /id="VAR_064322"
FT VARIANT 1653
FT /note="A -> E (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073614"
FT VARIANT 1656
FT /note="I -> M (in GEFS+2; exhibits a depolarizing shift in
FT the voltage dependence of activation; dbSNP:rs121917955)"
FT /evidence="ECO:0000269|PubMed:11254444,
FT ECO:0000269|PubMed:14672992"
FT /id="VAR_014273"
FT VARIANT 1657
FT /note="R -> C (in GEFS+2; exhibits a depolarizing shift in
FT the voltage dependence of activation; shows a 50% reduction
FT in current density and accelerates recovery from slow
FT inactivation; dbSNP:rs121918811)"
FT /evidence="ECO:0000269|PubMed:14672992"
FT /id="VAR_029709"
FT VARIANT 1657
FT /note="R -> H (probable disease-associated variant found in
FT a patient with cryptogenic focal epilepsy;
FT dbSNP:rs121917994)"
FT /evidence="ECO:0000269|PubMed:17347258,
FT ECO:0000269|PubMed:19589774"
FT /id="VAR_043370"
FT VARIANT 1658
FT /note="T -> M (in DRVT; dbSNP:rs121917922)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20522430"
FT /id="VAR_064270"
FT VARIANT 1658
FT /note="T -> R (in DRVT; dbSNP:rs121917922)"
FT /evidence="ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:18930999"
FT /id="VAR_064323"
FT VARIANT 1660
FT /note="L -> P (in DRVT; dbSNP:rs1131691675)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073615"
FT VARIANT 1661
FT /note="F -> S (in DRVT; dbSNP:rs121918797)"
FT /evidence="ECO:0000269|PubMed:12754708"
FT /id="VAR_029710"
FT VARIANT 1662
FT /note="A -> V (in DRVT; borderline phenotype;
FT dbSNP:rs794726839)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073616"
FT VARIANT 1664
FT /note="M -> K (in DRVT; dbSNP:rs121918765)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20522430"
FT /id="VAR_064271"
FT VARIANT 1667
FT /note="L -> P (in DRVT; dbSNP:rs1131691774)"
FT /evidence="ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073617"
FT VARIANT 1668
FT /note="P -> A (in DRVT; dbSNP:rs121917948)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684"
FT /id="VAR_029711"
FT VARIANT 1668
FT /note="P -> L (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073618"
FT VARIANT 1669
FT /note="A -> E (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21555645"
FT /id="VAR_085930"
FT VARIANT 1672
FT /note="N -> I (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073619"
FT VARIANT 1673
FT /note="I -> T (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073620"
FT VARIANT 1674
FT /note="G -> R (in DRVT; dbSNP:rs121918792)"
FT /evidence="ECO:0000269|PubMed:12083760"
FT /id="VAR_029712"
FT VARIANT 1674
FT /note="G -> S (found in a patient acute encephalopathy with
FT biphasic seizures and late reduced diffusion; unknown
FT pathological significance)"
FT /evidence="ECO:0000269|PubMed:26311622"
FT /id="VAR_075570"
FT VARIANT 1675
FT /note="L -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073621"
FT VARIANT 1677
FT /note="L -> F (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073622"
FT VARIANT 1683
FT /note="I -> F (probable disease-associated variant found in
FT a patient with an unclassified form of epilepsy)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073623"
FT VARIANT 1683
FT /note="I -> T (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073624"
FT VARIANT 1684
FT /note="Y -> D (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073625"
FT VARIANT 1684
FT /note="Y -> S (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073626"
FT VARIANT 1685
FT /note="A -> D (in DRVT; dbSNP:rs121918744)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029714"
FT VARIANT 1685
FT /note="A -> V (in GEFS+2; complete loss of function;
FT dbSNP:rs121918744)"
FT /evidence="ECO:0000269|PubMed:11524484,
FT ECO:0000269|PubMed:14672992"
FT /id="VAR_029715"
FT VARIANT 1687
FT /note="F -> S (in GEFS+2; dbSNP:rs121917932)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064324"
FT VARIANT 1688
FT /note="G -> W (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073627"
FT VARIANT 1692
FT /note="F -> S (in DRVT; dbSNP:rs121918778)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029716"
FT VARIANT 1694
FT /note="Y -> C (in DRVT; dbSNP:rs121918777)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029713"
FT VARIANT 1707
FT /note="F -> V (in DRVT; dbSNP:rs121917977)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_064349"
FT VARIANT 1709
FT /note="T -> I (in ICEGTC; loss-of-function mutation
FT resulting in absence of sodium current; dbSNP:rs121918629)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029717"
FT VARIANT 1713
FT /note="S -> N (in DRVT; dbSNP:rs121918816)"
FT /evidence="ECO:0000269|PubMed:16122630"
FT /id="VAR_064325"
FT VARIANT 1714
FT /note="M -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073628"
FT VARIANT 1714
FT /note="M -> R (in DRVT; dbSNP:rs121917949)"
FT /evidence="ECO:0000269|PubMed:17054684,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064326"
FT VARIANT 1716
FT /note="C -> R (in DRVT; dbSNP:rs121917926)"
FT /evidence="ECO:0000269|PubMed:17561957"
FT /id="VAR_064327"
FT VARIANT 1721
FT /note="T -> R (in DRVT; dbSNP:rs121917978)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_064350"
FT VARIANT 1724
FT /note="A -> P (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073629"
FT VARIANT 1725
FT /note="G -> C (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073630"
FT VARIANT 1726
FT /note="W -> R (in DRVT; dbSNP:rs121917979)"
FT /evidence="ECO:0000269|PubMed:19589774"
FT /id="VAR_064272"
FT VARIANT 1727
FT /note="D -> G (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073631"
FT VARIANT 1739
FT /note="P -> L (in GEFS+2)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073632"
FT VARIANT 1741
FT /note="C -> R (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073633"
FT VARIANT 1742
FT /note="D -> G (in GEFS+2; dbSNP:rs121918812)"
FT /evidence="ECO:0000269|PubMed:15694566"
FT /id="VAR_057998"
FT VARIANT 1749
FT /note="G -> E (in DRVT; dbSNP:rs121918798)"
FT /evidence="ECO:0000269|PubMed:12754708"
FT /id="VAR_029718"
FT VARIANT 1756
FT /note="C -> G (in DRVT; dbSNP:rs121918809)"
FT /evidence="ECO:0000269|PubMed:19563458,
FT ECO:0000269|PubMed:20452746"
FT /id="VAR_064273"
FT VARIANT 1762
FT /note="G -> E (in DRVT; dbSNP:rs121917950)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064328"
FT VARIANT 1763
FT /note="I -> N (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073634"
FT VARIANT 1765
FT /note="F -> L (in GEFS+2; disease phenotype consists of
FT partial epilepsy with antecedent febrile seizures and
FT seizure aggravation by antiepileptic drugs; loss-of-
FT function mutation resulting in complete absence of sodium
FT current)"
FT /evidence="ECO:0000269|PubMed:20550552"
FT /id="VAR_073635"
FT VARIANT 1766
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029719"
FT VARIANT 1770
FT /note="I -> F (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073636"
FT VARIANT 1770
FT /note="I -> N (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073637"
FT VARIANT 1770
FT /note="I -> T (in DRVT; borderline phenotype)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073638"
FT VARIANT 1771
FT /note="I -> F (in DRVT; borderline phenotype; also found in
FT a patient with focal epilepsy)"
FT /evidence="ECO:0000269|PubMed:18330841,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_073639"
FT VARIANT 1771
FT /note="I -> N (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073640"
FT VARIANT 1773
FT /note="S -> F (in DRVT; dbSNP:rs121917951)"
FT /evidence="ECO:0000269|PubMed:17054684"
FT /id="VAR_064329"
FT VARIANT 1780
FT /note="M -> T (in DRVT; dbSNP:rs121917952)"
FT /evidence="ECO:0000269|PubMed:12821740,
FT ECO:0000269|PubMed:17054684, ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_029720"
FT VARIANT 1781
FT /note="Y -> C (in DRVT and ICEGTC; dbSNP:rs121918779)"
FT /evidence="ECO:0000269|PubMed:14738421,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_029721"
FT VARIANT 1781
FT /note="Y -> H (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073641"
FT VARIANT 1782
FT /note="I -> M (in DRVT; dbSNP:rs121918763)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:20522430"
FT /id="VAR_064274"
FT VARIANT 1782
FT /note="I -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073642"
FT VARIANT 1783
FT /note="A -> T (in DRVT; dbSNP:rs121917980)"
FT /evidence="ECO:0000269|PubMed:18930999,
FT ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:20431604,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_064275"
FT VARIANT 1783
FT /note="A -> V (in DRVT; dbSNP:rs121917921)"
FT /evidence="ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:18930999, ECO:0000269|PubMed:21248271,
FT ECO:0000269|PubMed:23195492"
FT /id="VAR_064345"
FT VARIANT 1787
FT /note="E -> K (in DRVT; dbSNP:rs121917916)"
FT /evidence="ECO:0000269|PubMed:17561957,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_064330"
FT VARIANT 1788
FT /note="N -> K (in DRVT; unknown pathological significance;
FT dbSNP:rs1381184010)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073643"
FT VARIANT 1792
FT /note="A -> T (in DRVT)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073644"
FT VARIANT 1795
FT /note="E -> K (in GEFS+2; dbSNP:rs121918813)"
FT /evidence="ECO:0000269|PubMed:20600615"
FT /id="VAR_064276"
FT VARIANT 1807..1810
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029722"
FT VARIANT 1808
FT /note="F -> I (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073645"
FT VARIANT 1808
FT /note="F -> L (in ICEGTC; results in decreased peak current
FT density but significantly greater levels of persistent non-
FT inactivating current compared to wild-type channel;
FT dbSNP:rs121918757)"
FT /evidence="ECO:0000269|PubMed:12566275,
FT ECO:0000269|PubMed:16210358"
FT /id="VAR_029723"
FT VARIANT 1812..1815
FT /note="WEKF -> C (in DRVT)"
FT /id="VAR_029725"
FT VARIANT 1812
FT /note="W -> G (in DRVT; dbSNP:rs121918751)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029724"
FT VARIANT 1812
FT /note="W -> S (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073646"
FT VARIANT 1813..1815
FT /note="Missing (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073647"
FT VARIANT 1831
FT /note="F -> S (in DRVT; dbSNP:rs121918748)"
FT /evidence="ECO:0000269|PubMed:12566275"
FT /id="VAR_029726"
FT VARIANT 1832
FT /note="A -> P (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073648"
FT VARIANT 1835
FT /note="L -> F (in DRVT)"
FT /evidence="ECO:0000269|PubMed:18930999"
FT /id="VAR_073649"
FT VARIANT 1852
FT /note="M -> K (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073650"
FT VARIANT 1852
FT /note="M -> T (in GEFS+2; loss of function; defective
FT trafficking to cell membrane and no inhibition of its
FT interaction with SCN1B; dbSNP:rs121918783)"
FT /evidence="ECO:0000269|PubMed:12919402,
FT ECO:0000269|PubMed:17928445"
FT /id="VAR_029727"
FT VARIANT 1855
FT /note="P -> L (in DRVT; dbSNP:rs1057517958)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073651"
FT VARIANT 1857
FT /note="V -> L (in GEFS+2; dbSNP:rs121918814)"
FT /evidence="ECO:0000269|PubMed:15715999"
FT /id="VAR_057999"
FT VARIANT 1861
FT /note="R -> W (in ICEGTC)"
FT /evidence="ECO:0000269|PubMed:23195492"
FT /id="VAR_073652"
FT VARIANT 1866
FT /note="D -> Y (in GEFS+2; causes a positive shift in the
FT voltage dependence of sodium channel fast inactivation;
FT causes an increase in the magnitude of the persistent
FT current; causes delay in the kinetics of inactivation and
FT significantly reduces interaction with SCN1B;
FT dbSNP:rs121918815)"
FT /evidence="ECO:0000269|PubMed:15525788"
FT /id="VAR_058000"
FT VARIANT 1867
FT /note="I -> T (in GEFS+2; dbSNP:rs1131691773)"
FT /evidence="ECO:0000269|PubMed:18251839,
FT ECO:0000269|PubMed:21248271"
FT /id="VAR_073653"
FT VARIANT 1880
FT /note="G -> E (in DRVT; dbSNP:rs201905405)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073654"
FT VARIANT 1881
FT /note="E -> D (in DRVT; dbSNP:rs121918804)"
FT /evidence="ECO:0000269|PubMed:14504318"
FT /id="VAR_029728"
FT VARIANT 1909
FT /note="T -> I (in DRVT; functional channel displaying
FT decreased peak current densities but increased persistent
FT current; dbSNP:rs121918793)"
FT /evidence="ECO:0000269|PubMed:12083760,
FT ECO:0000269|PubMed:17054685"
FT /id="VAR_029729"
FT VARIANT 1909
FT /note="Missing (in DRVT; dbSNP:rs1553519902)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073655"
FT VARIANT 1922
FT /note="I -> T (in DRVT; dbSNP:rs121917981)"
FT /evidence="ECO:0000269|PubMed:17347258"
FT /id="VAR_064351"
FT VARIANT 1927
FT /note="R -> IIQ (in DRVT)"
FT /evidence="ECO:0000269|PubMed:21248271"
FT /id="VAR_073656"
FT VARIANT 1928
FT /note="R -> G (in dbSNP:rs121917956)"
FT /evidence="ECO:0000269|PubMed:11254444,
FT ECO:0000269|PubMed:18413471, ECO:0000269|PubMed:18930999"
FT /id="VAR_043371"
FT VARIANT 1955
FT /note="I -> T (in dbSNP:rs35735053)"
FT /evidence="ECO:0000269|PubMed:12610651"
FT /id="VAR_029730"
FT VARIANT 1957
FT /note="E -> G (in infantile spasms; dbSNP:rs121918802)"
FT /evidence="ECO:0000269|PubMed:14504318"
FT /id="VAR_029731"
FT VARIANT 1977
FT /note="M -> L (found in a patient with febrile seizures and
FT non-specific acute encephalopathy; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22309220"
FT /id="VAR_075571"
FT VARIANT 1988
FT /note="R -> W (found in a patient with epilepsy-aphasia and
FT febrile seizures plus; unknown pathological significance;
FT dbSNP:rs756519197)"
FT /evidence="ECO:0000269|PubMed:23708187"
FT /id="VAR_078611"
FT CONFLICT 670
FT /note="E -> G (in Ref. 2; AAK00217)"
FT /evidence="ECO:0000305"
FT CONFLICT 746
FT /note="L -> S (in Ref. 2; AAK00217)"
FT /evidence="ECO:0000305"
FT CONFLICT 930
FT /note="P -> PQ (in Ref. 2; AAK00217)"
FT /evidence="ECO:0000305"
FT CONFLICT 1158..1161
FT /note="DIGA -> GHRR (in Ref. 2; AAK00217)"
FT /evidence="ECO:0000305"
FT CONFLICT 1537
FT /note="F -> L (in Ref. 7; CAA46439/M91803)"
FT /evidence="ECO:0000305"
FT HELIX 117..125
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 128..145
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 152..176
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 189..204
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 205..207
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 215..225
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 226..229
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 234..245
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 248..268
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 269..271
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 272..274
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 315..318
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 322..324
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 359..362
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 365..367
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 369..379
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 384..395
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 397..399
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 400..438
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 750..762
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 763..766
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 770..786
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 794..818
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 819..821
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 832..847
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 856..871
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 874..885
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 886..890
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 891..911
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 915..918
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 920..922
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 925..927
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 937..949
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 954..963
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 965..994
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1204..1215
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1218..1233
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1234..1237
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1240..1244
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 1246..1248
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1249..1280
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1283..1304
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1312..1315
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1316..1326
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1327..1329
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1331..1341
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1344..1368
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 1369..1372
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 1375..1378
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1379..1381
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1387..1389
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1393..1401
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 1406..1409
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 1412..1417
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1418..1430
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1434..1442
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1457..1459
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1460..1469
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1470..1472
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1473..1493
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1504..1514
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1530..1539
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1541..1559
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1567..1594
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1603..1620
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1622..1627
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1632..1638
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1639..1642
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1643..1646
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1647..1651
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1656..1691
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1692..1694
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 1703..1709
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1710..1721
FT /evidence="ECO:0007829|PDB:7DTD"
FT TURN 1722..1725
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1726..1733
FT /evidence="ECO:0007829|PDB:7DTD"
FT STRAND 1748..1751
FT /evidence="ECO:0007829|PDB:7DTD"
FT HELIX 1759..1792
FT /evidence="ECO:0007829|PDB:7DTD"
SQ SEQUENCE 2009 AA; 228972 MW; 0593A6730F33C9A2 CRC64;
MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN
LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI
AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL
EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL
IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY
NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY
GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA
VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS
DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG
NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED
NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP
TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL
TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL
NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV
TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII
VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM
EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH
KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN
GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE
SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR
GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT
YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA
LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT
TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA
AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM
TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV
ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF
LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV
MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD
CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL
SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD
RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV
IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA
ACPPSYDRVT KPIVEKHEQE GKDEKAKGK
