P35498 (SCN1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sodium channel protein type 1 subunit alpha

Alternative name(s):
Sodium channel protein brain I subunit alpha
Sodium channel protein type I subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.1

Gene names

Name:	SCN1A
Synonyms:	NAC1, SCN1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2009 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient.
Subunit structure	The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with FGF13; may regulate SCN1A activity. Ref.8
Subcellular location	Membrane; Multi-pass membrane protein.
Domain	The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Involvement in disease	Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Ref.10 Ref.12 Ref.13 Ref.16 Ref.18 Ref.23 Ref.26 Ref.30 Ref.32 Ref.36 Ref.37 Ref.40 Ref.44 Ref.49 Ref.53 Ref.55 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]: A rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core SMEI. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.14 Ref.15 Ref.17 Ref.18 Ref.20 Ref.21 Ref.22 Ref.24 Ref.25 Ref.28 Ref.31 Ref.33 Ref.34 Ref.35 Ref.36 Ref.40 Ref.46 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.54 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.37 Familial hemiplegic migraine 3 (FHM3) [MIM:609634]: A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.27 Ref.38 Ref.39 Ref.43 Familial febrile convulsions 3A (FEB3A) [MIM:604403]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.29
Sequence similarities	Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily. [View classification] Contains 1 IQ domain.

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy
Domain	Repeat Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ion channel Sodium channel Voltage-gated channel
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adult walking behavior Inferred from electronic annotation. Source: Compara neuromuscular process controlling posture Inferred from electronic annotation. Source: Compara neuronal action potential propagation Inferred from electronic annotation. Source: Compara regulation of action potential in neuron Inferred from electronic annotation. Source: Compara
Cellular_component	T-tubule Inferred from electronic annotation. Source: Compara Z disc Inferred from sequence or structural similarity. Source: BHF-UCL axon initial segment Inferred from electronic annotation. Source: Compara integral to membrane Non-traceable author statement. Source: UniProtKB intercalated disc Inferred from electronic annotation. Source: Compara neuronal cell body Inferred from electronic annotation. Source: Compara node of Ranvier Inferred from electronic annotation. Source: Compara voltage-gated sodium channel complex Inferred from electronic annotation. Source: InterPro
Molecular_function	voltage-gated sodium channel activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P35498-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P35498-2)

The sequence of this isoform differs from the canonical sequence as follows:
     671-681: Missing.

Isoform 3 (identifier: P35498-3)

The sequence of this isoform differs from the canonical sequence as follows:
     654-681: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2009	2009	Sodium channel protein type 1 subunit alpha		PRO_0000048489
Regions
	Transmembrane	124 – 147	24	Helical; Name=S1 of repeat I; By similarity
	Transmembrane	156 – 175	20	Helical; Name=S2 of repeat I; By similarity
	Transmembrane	189 – 207	19	Helical; Name=S3 of repeat I; By similarity
	Transmembrane	214 – 233	20	Helical; Voltage-sensor; Name=S4 of repeat I; By similarity
	Transmembrane	250 – 273	24	Helical; Name=S5 of repeat I; By similarity
	Transmembrane	400 – 425	26	Helical; Name=S6 of repeat I; By similarity
	Transmembrane	763 – 787	25	Helical; Name=S1 of repeat II; By similarity
	Transmembrane	799 – 822	24	Helical; Name=S2 of repeat II; By similarity
	Transmembrane	831 – 850	20	Helical; Name=S3 of repeat II; By similarity
	Transmembrane	857 – 876	20	Helical; Voltage-sensor; Name=S4 of repeat II; By similarity
	Transmembrane	893 – 913	21	Helical; Name=S5 of repeat II; By similarity
	Transmembrane	967 – 992	26	Helical; Name=S6 of repeat II; By similarity
	Transmembrane	1214 – 1237	24	Helical; Name=S1 of repeat III; By similarity
	Transmembrane	1251 – 1276	26	Helical; Name=S2 of repeat III; By similarity
	Transmembrane	1283 – 1304	22	Helical; Name=S3 of repeat III; By similarity
	Transmembrane	1309 – 1330	22	Helical; Voltage-sensor; Name=S4 of repeat III; By similarity
	Transmembrane	1350 – 1377	28	Helical; Name=S5 of repeat III; By similarity
	Transmembrane	1457 – 1483	27	Helical; Name=S6 of repeat III; By similarity
	Transmembrane	1537 – 1560	24	Helical; Name=S1 of repeat IV; By similarity
	Transmembrane	1572 – 1595	24	Helical; Name=S2 of repeat IV; By similarity
	Transmembrane	1602 – 1625	24	Helical; Name=S3 of repeat IV; By similarity
	Transmembrane	1636 – 1657	22	Helical; Voltage-sensor; Name=S4 of repeat IV; By similarity
	Transmembrane	1673 – 1695	23	Helical; Name=S5 of repeat IV; By similarity
	Transmembrane	1762 – 1786	25	Helical; Name=S6 of repeat IV; By similarity
	Repeat	110 – 454	345	I
	Repeat	750 – 1022	273	II
	Repeat	1200 – 1514	315	III
	Repeat	1523 – 1821	299	IV
	Domain	1915 – 1944	30	IQ
Amino acid modifications
	Glycosylation	211	1	N-linked (GlcNAc...) Potential
	Glycosylation	284	1	N-linked (GlcNAc...) Potential
	Glycosylation	295	1	N-linked (GlcNAc...) Potential
	Glycosylation	301	1	N-linked (GlcNAc...) Potential
	Glycosylation	306	1	N-linked (GlcNAc...) Potential
	Glycosylation	338	1	N-linked (GlcNAc...) Potential
	Glycosylation	601	1	N-linked (GlcNAc...) Potential
	Glycosylation	621	1	N-linked (GlcNAc...) Potential
	Glycosylation	681	1	N-linked (GlcNAc...) Potential
	Glycosylation	892	1	N-linked (GlcNAc...) Potential
	Glycosylation	1064	1	N-linked (GlcNAc...) Potential
	Glycosylation	1080	1	N-linked (GlcNAc...) Potential
	Glycosylation	1146	1	N-linked (GlcNAc...) Potential
	Glycosylation	1378	1	N-linked (GlcNAc...) Potential
	Glycosylation	1392	1	N-linked (GlcNAc...) Potential
	Glycosylation	1403	1	N-linked (GlcNAc...) Potential
	Glycosylation	1788	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	654 – 681	28	Missing in isoform 3.		VSP_045399
	Alternative sequence	671 – 681	11	Missing in isoform 2.		VSP_001031
	Natural variant	27	1	R → T in GEFS+2. Ref.49 Corresponds to variant rs121917906 [ dbSNP | Ensembl ].		VAR_064229
	Natural variant	63	1	F → L in SMEI. Ref.49 Corresponds to variant rs121917907 [ dbSNP | Ensembl ].		VAR_064230
	Natural variant	74	1	S → P in GEFS+2. Ref.36 Corresponds to variant rs121917931 [ dbSNP | Ensembl ].		VAR_064295
	Natural variant	78	1	E → D in SMEI. Ref.20 Ref.31 Corresponds to variant rs121917933 [ dbSNP | Ensembl ].		VAR_029660
	Natural variant	79	1	D → H in SMEI; borderline phenotype. Ref.35 Corresponds to variant rs121917982 [ dbSNP | Ensembl ].		VAR_064346
	Natural variant	84	1	Y → C in SMEI. Ref.35 Ref.51 Corresponds to variant rs121917964 [ dbSNP | Ensembl ].		VAR_043349
	Natural variant	90	1	F → S in SMEI. Ref.50 Corresponds to variant rs121918733 [ dbSNP | Ensembl ].		VAR_064231
	Natural variant	91	1	I → T in SMEI. Ref.50 Corresponds to variant rs121918734 [ dbSNP | Ensembl ].		VAR_064232
	Natural variant	101	1	R → Q in SMEI. Ref.22 Ref.36 Ref.50 Ref.51 Corresponds to variant rs121917918 [ dbSNP | Ensembl ].		VAR_029661
	Natural variant	101	1	R → W in SMEI. Ref.35 Ref.50 Corresponds to variant rs121917965 [ dbSNP | Ensembl ].		VAR_064233
	Natural variant	103	1	S → G in SMEI. Ref.15 Corresponds to variant rs121918743 [ dbSNP | Ensembl ].		VAR_029662
	Natural variant	112	1	T → I in SMEI. Ref.15 Corresponds to variant rs121918745 [ dbSNP | Ensembl ].		VAR_029663
	Natural variant	118	1	R → S in SMEI. Ref.40 Corresponds to variant rs121917959 [ dbSNP | Ensembl ].		VAR_043350
	Natural variant	124	1	I → N in SMEI. Ref.52 Corresponds to variant rs121918761 [ dbSNP | Ensembl ].		VAR_064234
	Natural variant	145	1	M → T in FEB3A; loss of function. Ref.29 Corresponds to variant rs121918631 [ dbSNP | Ensembl ].		VAR_025366
	Natural variant	162	1	T → P in SMEI. Ref.31 Corresponds to variant rs121917934 [ dbSNP | Ensembl ].		VAR_064296
	Natural variant	171	1	I → K in SMEI. Ref.51 Corresponds to variant rs121918766 [ dbSNP | Ensembl ].		VAR_064235
	Natural variant	175	1	A → T in SMEI. Ref.51 Corresponds to variant rs121918767 [ dbSNP | Ensembl ].		VAR_064236
	Natural variant	177	1	G → E in SMEI. Ref.20 Corresponds to variant rs121918770 [ dbSNP | Ensembl ].		VAR_029664
	Natural variant	188	1	D → V in GEFS+2. Ref.9 Corresponds to variant rs121917953 [ dbSNP | Ensembl ].		VAR_014267
	Natural variant	190	1	W → R in SMEI. Ref.22 Corresponds to variant rs121918773 [ dbSNP | Ensembl ].		VAR_029665
	Natural variant	191	1	N → Y in SMEI. Ref.52 Corresponds to variant rs121918762 [ dbSNP | Ensembl ].		VAR_064237
	Natural variant	194	1	D → N in SMEI. Ref.31 Ref.51 Corresponds to variant rs121917935 [ dbSNP | Ensembl ].		VAR_064238
	Natural variant	199	1	T → R in SMEI; borderline phenotype with spike wave activity. Ref.35 Corresponds to variant rs121917983 [ dbSNP | Ensembl ].		VAR_064347
	Natural variant	217	1	T → K in SMEI. Ref.31 Corresponds to variant rs121917936 [ dbSNP | Ensembl ].		VAR_064297
	Natural variant	226	1	T → M in SMEI; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy. Ref.35 Corresponds to variant rs121917984 [ dbSNP | Ensembl ].		VAR_043351
	Natural variant	227	1	I → S in SMEI. Ref.20 Ref.31 Ref.51 Corresponds to variant rs121917937 [ dbSNP | Ensembl ].		VAR_029666
	Natural variant	239	1	A → T in SMEI. Ref.35 Ref.50 Corresponds to variant rs121917985 [ dbSNP | Ensembl ].		VAR_043352
	Natural variant	239	1	A → V in SMEI. Ref.49 Corresponds to variant rs121917909 [ dbSNP | Ensembl ].		VAR_064239
	Natural variant	252	1	I → N in SMEI. Ref.24 Corresponds to variant rs121918780 [ dbSNP | Ensembl ].		VAR_029667
	Natural variant	259	1	S → R in SMEI. Ref.50 Corresponds to variant rs121918735 [ dbSNP | Ensembl ].		VAR_064240
	Natural variant	265	1	G → W in SMEI. Ref.15 Corresponds to variant rs121918749 [ dbSNP | Ensembl ].		VAR_029668
	Natural variant	280	1	W → R in SMEI. Ref.20 Ref.31 Corresponds to variant rs121917938 [ dbSNP | Ensembl ].		VAR_029669
	Natural variant	297	1	T → I in SMEI. Ref.20 Corresponds to variant rs121918771 [ dbSNP | Ensembl ].		VAR_029670
	Natural variant	322	1	R → I in SMEI. Ref.36 Corresponds to variant rs121917928 [ dbSNP | Ensembl ].		VAR_064298
	Natural variant	343	1	G → D in SMEI. Ref.15 Corresponds to variant rs121918753 [ dbSNP | Ensembl ].		VAR_029671
	Natural variant	356	1	R → G in SMEI. Ref.36 Corresponds to variant rs121917920 [ dbSNP | Ensembl ].		VAR_064299
	Natural variant	358	1	P → T in SMEI. Ref.36 Corresponds to variant rs121917923 [ dbSNP | Ensembl ].		VAR_064300
	Natural variant	366	1	D → E in SMEI. Ref.40 Corresponds to variant rs121917958 [ dbSNP | Ensembl ].		VAR_043353
	Natural variant	377	1	R → Q in GEFS+2. Ref.40 Corresponds to variant rs121917957 [ dbSNP | Ensembl ].		VAR_043354
	Natural variant	383	1	F → L in SMEI. Ref.31 Corresponds to variant rs121917939 [ dbSNP | Ensembl ].		VAR_064301
	Natural variant	388	1	Y → H in GEFS+2. Ref.44 Corresponds to variant rs121918781 [ dbSNP | Ensembl ].		VAR_064241
	Natural variant	393	1	R → C in SMEI; also in a patient with myoclonic astatic epilepsy. Ref.31 Ref.35 Ref.36 Corresponds to variant rs121917929 [ dbSNP | Ensembl ].		VAR_043355
	Natural variant	393	1	R → H in SMEI. Ref.17 Ref.36 Ref.50 Corresponds to variant rs121917927 [ dbSNP | Ensembl ].		VAR_029672
	Natural variant	393	1	R → S in SMEI. Ref.31 Corresponds to variant rs121917929 [ dbSNP | Ensembl ].		VAR_064302
	Natural variant	395	1	A → P Probable disease-associated mutation found in a patient with cryptogenic generalized epilepsy. Ref.35 Corresponds to variant rs121917988 [ dbSNP | Ensembl ].		VAR_043356
	Natural variant	403	1	F → L in SMEI. Ref.33 Ref.35 Corresponds to variant rs121917966 [ dbSNP | Ensembl ].		VAR_064303
	Natural variant	406	1	V → F in SMEI. Ref.51 Corresponds to variant rs121918768 [ dbSNP | Ensembl ].		VAR_064242
	Natural variant	413	1	Y → N in SMEI. Ref.33 Ref.35 Ref.51 Corresponds to variant rs121917967 [ dbSNP | Ensembl ].		VAR_064243
	Natural variant	422	1	V → E Probable disease-associated mutation found in a patient with cryptogenic generalized epilepsy. Ref.35 Corresponds to variant rs121917989 [ dbSNP | Ensembl ].		VAR_043357
	Natural variant	426	1	Y → N in SMEI. Ref.20 Ref.31 Corresponds to variant rs121917940 [ dbSNP | Ensembl ].		VAR_029673
	Natural variant	542	1	R → Q Associated with autism. Ref.19 Corresponds to variant rs121918817 [ dbSNP | Ensembl ].		VAR_029674
	Natural variant	604	1	R → H in SMEI. Ref.51 Corresponds to variant rs121918769 [ dbSNP | Ensembl ].		VAR_064244
	Natural variant	626	1	S → G in a patient with cryptogenic generalized epilepsy; unknown pathological significance. Ref.35 Corresponds to variant rs121917990 [ dbSNP | Ensembl ].		VAR_043358
	Natural variant	783	1	L → P in SMEI. Ref.35 Ref.51 Corresponds to variant rs121917968 [ dbSNP | Ensembl ].		VAR_064245
	Natural variant	790	1	Y → C in GEFS+2. Ref.16 Corresponds to variant rs121918782 [ dbSNP | Ensembl ].		VAR_029675
	Natural variant	808	1	T → S in ICEGTC. Ref.15 Corresponds to variant rs121918758 [ dbSNP | Ensembl ].		VAR_029676
	Natural variant	812	1	T → R in SMEI. Ref.31 Corresponds to variant rs121917941 [ dbSNP | Ensembl ].		VAR_064304
	Natural variant	846	1	E → K in SMEI. Ref.31 Corresponds to variant rs121917942 [ dbSNP | Ensembl ].		VAR_064305
	Natural variant	859	1	R → C in GEFS+2; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel. Ref.32 Corresponds to variant rs121918784 [ dbSNP | Ensembl ].		VAR_064306
	Natural variant	862	1	R → Q in SMEI. Ref.48 Corresponds to variant rs121918785 [ dbSNP | Ensembl ].		VAR_064246
	Natural variant	875	1	T → K in SMEI. Ref.52 Corresponds to variant rs121918623 [ dbSNP | Ensembl ].		VAR_064247
	Natural variant	875	1	T → M in GEFS+2. Ref.1 Corresponds to variant rs121918623 [ dbSNP | Ensembl ].		VAR_010110
	Natural variant	902	1	F → C in SMEI. Ref.14 Corresponds to variant rs121918787 [ dbSNP | Ensembl ].		VAR_029677
	Natural variant	931	1	R → C in SMEI. Ref.14 Corresponds to variant rs121918788 [ dbSNP | Ensembl ].		VAR_029678
	Natural variant	934	1	M → I in SMEI. Ref.22 Corresponds to variant rs121918774 [ dbSNP | Ensembl ].		VAR_029679
	Natural variant	939	1	H → Q in SMEI. Ref.17 Corresponds to variant rs121918795 [ dbSNP | Ensembl ].		VAR_029680
	Natural variant	939	1	H → Y in SMEI. Ref.50 Corresponds to variant rs121918736 [ dbSNP | Ensembl ].		VAR_064248
	Natural variant	942	1	L → P in SMEI. Ref.31 Corresponds to variant rs121917943 [ dbSNP | Ensembl ].		VAR_064307
	Natural variant	944	1	V → A in SMEI. Ref.22 Corresponds to variant rs121917969 [ dbSNP | Ensembl ].		VAR_029681
	Natural variant	944	1	V → E in SMEI. Ref.35 Ref.51		VAR_064249
	Natural variant	945	1	F → L in SMEI. Ref.35 Ref.51 Corresponds to variant rs121917970 [ dbSNP | Ensembl ].		VAR_064250
	Natural variant	946	1	R → C in SMEI. Ref.22 Corresponds to variant rs121918775 [ dbSNP | Ensembl ].		VAR_029682
	Natural variant	946	1	R → H in SMEI. Ref.22 Ref.33 Ref.51 Corresponds to variant rs121917971 [ dbSNP | Ensembl ].		VAR_029683
	Natural variant	946	1	R → S in SMEI. Ref.28 Corresponds to variant rs121918775 [ dbSNP | Ensembl ].		VAR_057995
	Natural variant	950	1	G → E in SMEI. Ref.35 Ref.51 Corresponds to variant rs121917972 [ dbSNP | Ensembl ].		VAR_064251
	Natural variant	952	1	W → G in SMEI. Ref.50 Corresponds to variant rs121918737 [ dbSNP | Ensembl ].		VAR_064252
	Natural variant	954	1	E → K in SMEI. Ref.48 Corresponds to variant rs121918786 [ dbSNP | Ensembl ].		VAR_064253
	Natural variant	957	1	W → L in SMEI. Ref.36 Corresponds to variant rs121917917 [ dbSNP | Ensembl ].		VAR_064308
	Natural variant	959	1	C → R in SMEI. Ref.17 Corresponds to variant rs121918796 [ dbSNP | Ensembl ].		VAR_029684
	Natural variant	960	1	M → V in SMEI. Ref.15 Corresponds to variant rs121918750 [ dbSNP | Ensembl ].		VAR_029685
	Natural variant	973	1	M → V in a patient with cryptogenic generalized epilepsy; uncertain pathological role. Ref.35 Corresponds to variant rs121917991 [ dbSNP | Ensembl ].		VAR_043359
	Natural variant	979	1	G → R in ICEGTC. Ref.15 Corresponds to variant rs121918754 [ dbSNP | Ensembl ].		VAR_029686
	Natural variant	983	1	V → A in ICEGTC. Ref.15 Corresponds to variant rs121918756 [ dbSNP | Ensembl ].		VAR_029687
	Natural variant	985	1	N → I in SMEI. Ref.15 Corresponds to variant rs121918747 [ dbSNP | Ensembl ].		VAR_029688
	Natural variant	986	1	L → F in SMEI; complete loss of function. Ref.11 Ref.18 Corresponds to variant rs121918625 [ dbSNP | Ensembl ].		VAR_014268
	Natural variant	1011	1	N → I in ICEGTC. Ref.15 Corresponds to variant rs121918759 [ dbSNP | Ensembl ].		VAR_029689
	Natural variant	1034	1	I → T Associated with autism. Ref.19 Corresponds to variant rs121918818 [ dbSNP | Ensembl ].		VAR_029690
	Natural variant	1038	1	F → L Associated with autism. Ref.19		VAR_029691
	Natural variant	1067	1	A → T. Ref.4 Ref.9 Ref.14 Ref.15 Ref.19 Ref.25 Ref.42 Ref.45 Corresponds to variant rs2298771 [ dbSNP | Ensembl ].		VAR_014269
	Natural variant	1174	1	T → S in FHM3. Ref.39 Corresponds to variant rs121918799 [ dbSNP | Ensembl ].		VAR_064309
	Natural variant	1204	1	W → R in GEFS+2. Ref.10 Ref.36 Corresponds to variant rs121917930 [ dbSNP | Ensembl ].		VAR_014270
	Natural variant	1207	1	L → P in SMEI. Ref.40 Corresponds to variant rs121917963 [ dbSNP | Ensembl ].		VAR_043360
	Natural variant	1210	1	T → K in SMEI. Ref.50 Corresponds to variant rs121918738 [ dbSNP | Ensembl ].		VAR_064254
	Natural variant	1231	1	S → R in SMEI. Ref.15 Corresponds to variant rs121918746 [ dbSNP | Ensembl ].		VAR_029692
	Natural variant	1231	1	S → T in SMEI. Ref.34 Corresponds to variant rs121918800 [ dbSNP | Ensembl ].		VAR_064310
	Natural variant	1233	1	G → R in SMEI. Ref.20 Ref.31 Corresponds to variant rs121917911 [ dbSNP | Ensembl ].		VAR_029693
	Natural variant	1238	1	E → D in SMEI. Ref.33 Ref.35 Corresponds to variant rs121917973 [ dbSNP | Ensembl ].		VAR_043361
	Natural variant	1245	1	R → Q in SMEI. Ref.31 Corresponds to variant rs121917912 [ dbSNP | Ensembl ].		VAR_064311
	Natural variant	1260	1	T → P in SMEI. Ref.50 Corresponds to variant rs121918739 [ dbSNP | Ensembl ].		VAR_064255
	Natural variant	1263	1	F → L in SMEI. Ref.15 Corresponds to variant rs121918752 [ dbSNP | Ensembl ].		VAR_029694
	Natural variant	1265	1	L → P in SMEI. Ref.14 Corresponds to variant rs121918794 [ dbSNP | Ensembl ].		VAR_029695
	Natural variant	1270	1	K → T in GEFS+2. Ref.13 Corresponds to variant rs121918626 [ dbSNP | Ensembl ].		VAR_014271
	Natural variant	1287	1	L → P in SMEI. Ref.50 Corresponds to variant rs121918740 [ dbSNP | Ensembl ].		VAR_064256
	Natural variant	1289	1	Missing in SMEI. Ref.14		VAR_029696
	Natural variant	1308	1	E → D in SMEI. Ref.49 Corresponds to variant rs121917910 [ dbSNP | Ensembl ].		VAR_064257
	Natural variant	1309	1	L → F in GEFS+2. Ref.55 Corresponds to variant rs121918801 [ dbSNP | Ensembl ].		VAR_064258
	Natural variant	1326	1	A → P in SMEI. Ref.21 Corresponds to variant rs121918803 [ dbSNP | Ensembl ].		VAR_029698
	Natural variant	1335	1	V → M in SMEI. Ref.40 Ref.50 Corresponds to variant rs121917960 [ dbSNP | Ensembl ].		VAR_043362
	Natural variant	1353	1	V → L in GEFS+2; complete loss of function. Ref.9 Ref.18 Corresponds to variant rs121917954 [ dbSNP | Ensembl ].		VAR_014272
	Natural variant	1355	1	L → P in SMEI. Ref.22 Corresponds to variant rs121918776 [ dbSNP | Ensembl ].		VAR_029697
	Natural variant	1358	1	W → S in SMEI. Ref.40 Corresponds to variant rs121917961 [ dbSNP | Ensembl ].		VAR_043363
	Natural variant	1366	1	V → I in GEFS+2 and ICEGTC. Ref.37 Corresponds to variant rs121918805 [ dbSNP | Ensembl ].		VAR_043364
	Natural variant	1367	1	N → K in SMEI. Ref.52 Corresponds to variant rs121918760 [ dbSNP | Ensembl ].		VAR_064259
	Natural variant	1390	1	V → M in SMEI; some patients have a borderline SMEI phenotype. Ref.14 Ref.35 Ref.50 Corresponds to variant rs121917986 [ dbSNP | Ensembl ].		VAR_029699
	Natural variant	1396	1	C → G in SMEI; some patients have a borderline SMEI phenotype. Ref.33 Ref.35 Ref.51 Corresponds to variant rs121917987 [ dbSNP | Ensembl ].		VAR_064260
	Natural variant	1414	1	N → Y in SMEI. Ref.36 Corresponds to variant rs121917925 [ dbSNP | Ensembl ].		VAR_064312
	Natural variant	1422	1	Y → C in SMEI. Ref.31 Corresponds to variant rs121917913 [ dbSNP | Ensembl ].		VAR_064313
	Natural variant	1426	1	L → R in SMEI. Ref.31 Corresponds to variant rs121917944 [ dbSNP | Ensembl ].		VAR_064314
	Natural variant	1428	1	V → A in GEFS+2. Ref.12 Corresponds to variant rs121918627 [ dbSNP | Ensembl ].		VAR_029700
	Natural variant	1433	1	G → E in SMEI. Ref.50 Corresponds to variant rs121918741 [ dbSNP | Ensembl ].		VAR_064261
	Natural variant	1433	1	G → R in SMEI. Ref.49 Corresponds to variant rs121917908 [ dbSNP | Ensembl ].		VAR_064262
	Natural variant	1434	1	W → R in SMEI. Ref.14 Ref.17 Corresponds to variant rs121918789 [ dbSNP | Ensembl ].		VAR_029701
	Natural variant	1441	1	A → P in SMEI. Ref.35 Corresponds to variant rs121917974 [ dbSNP | Ensembl ].		VAR_064348
	Natural variant	1450	1	Q → K in SMEI. Ref.51 Corresponds to variant rs121918806 [ dbSNP | Ensembl ].		VAR_064263
	Natural variant	1450	1	Q → R in SMEI. Ref.14 Corresponds to variant rs121918790 [ dbSNP | Ensembl ].		VAR_029702
	Natural variant	1451	1	P → L in SMEI. Ref.31 Corresponds to variant rs121917945 [ dbSNP | Ensembl ].		VAR_064315
	Natural variant	1461	1	L → I in SMEI. Ref.20 Corresponds to variant rs121918772 [ dbSNP | Ensembl ].		VAR_029703
	Natural variant	1462	1	Y → C in SMEI. Ref.40 Corresponds to variant rs121917962 [ dbSNP | Ensembl ].		VAR_043365
	Natural variant	1463	1	F → S in SMEI. Ref.20 Ref.31 Corresponds to variant rs121917946 [ dbSNP | Ensembl ].		VAR_029704
	Natural variant	1470	1	G → W in SMEI. Ref.36 Corresponds to variant rs121917924 [ dbSNP | Ensembl ].		VAR_064316
	Natural variant	1475	1	L → S in SMEI. Ref.31 Corresponds to variant rs121917947 [ dbSNP | Ensembl ].		VAR_064317
	Natural variant	1480	1	G → V Probable disease-associated mutation found in a patient with myoclonic astatic epilepsy. Ref.35 Corresponds to variant rs121917996 [ dbSNP | Ensembl ].		VAR_043366
	Natural variant	1489	1	Q → H in FHM3. Ref.43 Corresponds to variant rs121918633 [ dbSNP | Ensembl ].		VAR_057996
	Natural variant	1489	1	Q → K in FHM3. Ref.27 Corresponds to variant rs121918628 [ dbSNP | Ensembl ].		VAR_025281
	Natural variant	1499	1	F → L in FHM3. Ref.43 Corresponds to variant rs121918632 [ dbSNP | Ensembl ].		VAR_057997
	Natural variant	1514	1	L → S in SMEI. Ref.52 Corresponds to variant rs121918764 [ dbSNP | Ensembl ].		VAR_064264
	Natural variant	1543	1	F → S in a patient with cryptogenic focal epilepsy. Ref.35 Corresponds to variant rs121917992 [ dbSNP | Ensembl ].		VAR_043367
	Natural variant	1545	1	I → V in SMEI. Ref.35 Ref.51 Corresponds to variant rs121917975 [ dbSNP | Ensembl ].		VAR_064265
	Natural variant	1559	1	Missing in SMEI. Ref.22		VAR_029705
	Natural variant	1575	1	R → C Detected in a patient with Rasmussen encephalitis. Ref.41 Corresponds to variant rs121918807 [ dbSNP | Ensembl ].		VAR_064318
	Natural variant	1586	1	G → E in SMEI. Ref.50 Corresponds to variant rs121918742 [ dbSNP | Ensembl ].		VAR_064266
	Natural variant	1588	1	C → R in SMEI. Ref.36 Corresponds to variant rs121917919 [ dbSNP | Ensembl ].		VAR_064319
	Natural variant	1596	1	R → C Probable disease-associated mutation found in a patient with cryptogenic focal epilepsy. Ref.35 Corresponds to variant rs121917993 [ dbSNP | Ensembl ].		VAR_043368
	Natural variant	1608	1	D → Y in SMEI. Ref.36 Corresponds to variant rs121917915 [ dbSNP | Ensembl ].		VAR_064320
	Natural variant	1611	1	V → F in ICEGTC. Ref.15 Corresponds to variant rs121918630 [ dbSNP | Ensembl ].		VAR_029706
	Natural variant	1612	1	V → I in SMEI. Ref.46 Ref.54 Corresponds to variant rs121918808 [ dbSNP | Ensembl ].		VAR_064267
	Natural variant	1630	1	V → M in SMEI. Ref.36 Corresponds to variant rs121917914 [ dbSNP | Ensembl ].		VAR_064321
	Natural variant	1632	1	P → S in ICEGTC. Ref.15 Corresponds to variant rs121918755 [ dbSNP | Ensembl ].		VAR_029707
	Natural variant	1636	1	R → Q Probable disease-associated mutation found in a patient with Lennon-Gastaut syndrome. Ref.35 Ref.51 Corresponds to variant rs121917995 [ dbSNP | Ensembl ].		VAR_043369
	Natural variant	1637	1	V → E Detected in a child with febrile status epilepticus and liver failure. Ref.47 Corresponds to variant rs121918810 [ dbSNP | Ensembl ].		VAR_064268
	Natural variant	1645	1	R → Q in SMEI. Ref.33 Ref.35 Ref.51 Corresponds to variant rs121917976 [ dbSNP | Ensembl ].		VAR_064269
	Natural variant	1648	1	R → C in SMEI. Ref.14 Corresponds to variant rs121918791 [ dbSNP | Ensembl ].		VAR_029708
	Natural variant	1648	1	R → H in GEFS+2 and SMEI. Ref.1 Ref.52 Corresponds to variant rs121918622 [ dbSNP | Ensembl ].		VAR_010111
	Natural variant	1649	1	L → Q in FHM3. Ref.38		VAR_064322
	Natural variant	1656	1	I → M in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation. Ref.9 Ref.18 Corresponds to variant rs121917955 [ dbSNP | Ensembl ].		VAR_014273
	Natural variant	1657	1	R → C in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation; shows a 50% reduction in current density and accelerates recovery from slow inactivation. Ref.18 Corresponds to variant rs121918811 [ dbSNP | Ensembl ].		VAR_029709
	Natural variant	1657	1	R → H Probable disease-associated mutation found in a patient with cryptogenic focal epilepsy. Ref.35 Ref.51 Corresponds to variant rs121917994 [ dbSNP | Ensembl ].		VAR_043370
	Natural variant	1658	1	T → M in SMEI. Ref.52 Corresponds to variant rs121917922 [ dbSNP | Ensembl ].		VAR_064270
	Natural variant	1658	1	T → R in SMEI. Ref.36 Corresponds to variant rs121917922 [ dbSNP | Ensembl ].		VAR_064323
	Natural variant	1661	1	F → S in SMEI. Ref.17 Corresponds to variant rs121918797 [ dbSNP | Ensembl ].		VAR_029710
	Natural variant	1664	1	M → K in SMEI. Ref.52 Corresponds to variant rs121918765 [ dbSNP | Ensembl ].		VAR_064271
	Natural variant	1668	1	P → A in SMEI. Ref.20 Ref.31 Corresponds to variant rs121917948 [ dbSNP | Ensembl ].		VAR_029711
	Natural variant	1674	1	G → R in SMEI. Ref.14 Corresponds to variant rs121918792 [ dbSNP | Ensembl ].		VAR_029712
	Natural variant	1685	1	A → D in SMEI. Ref.15 Corresponds to variant rs121918744 [ dbSNP | Ensembl ].		VAR_029714
	Natural variant	1685	1	A → V in GEFS+2; complete loss of function. Ref.12 Ref.18 Corresponds to variant rs121918744 [ dbSNP | Ensembl ].		VAR_029715
	Natural variant	1687	1	F → S in GEFS+2. Ref.36 Corresponds to variant rs121917932 [ dbSNP | Ensembl ].		VAR_064324
	Natural variant	1692	1	F → S in SMEI. Ref.22 Corresponds to variant rs121918778 [ dbSNP | Ensembl ].		VAR_029716
	Natural variant	1694	1	Y → C in SMEI. Ref.22 Corresponds to variant rs121918777 [ dbSNP | Ensembl ].		VAR_029713
	Natural variant	1707	1	F → V in SMEI. Ref.35 Corresponds to variant rs121917977 [ dbSNP | Ensembl ].		VAR_064349
	Natural variant	1709	1	T → I in ICEGTC. Ref.15 Corresponds to variant rs121918629 [ dbSNP | Ensembl ].		VAR_029717
	Natural variant	1713	1	S → N in SMEI. Ref.25 Corresponds to variant rs121918816 [ dbSNP | Ensembl ].		VAR_064325
	Natural variant	1714	1	M → R in SMEI. Ref.31 Corresponds to variant rs121917949 [ dbSNP | Ensembl ].		VAR_064326
	Natural variant	1716	1	C → R in SMEI. Ref.36 Corresponds to variant rs121917926 [ dbSNP | Ensembl ].		VAR_064327
	Natural variant	1721	1	T → R in SMEI. Ref.35 Corresponds to variant rs121917978 [ dbSNP | Ensembl ].		VAR_064350
	Natural variant	1726	1	W → R in SMEI. Ref.51 Corresponds to variant rs121917979 [ dbSNP | Ensembl ].		VAR_064272
	Natural variant	1742	1	D → G in GEFS+2. Ref.30 Corresponds to variant rs121918812 [ dbSNP | Ensembl ].		VAR_057998
	Natural variant	1749	1	G → E in SMEI. Ref.17 Corresponds to variant rs121918798 [ dbSNP | Ensembl ].		VAR_029718
	Natural variant	1756	1	C → G in SMEI. Ref.46 Ref.54 Corresponds to variant rs121918809 [ dbSNP | Ensembl ].		VAR_064273
	Natural variant	1762	1	G → E in SMEI. Ref.31 Corresponds to variant rs121917950 [ dbSNP | Ensembl ].		VAR_064328
	Natural variant	1766	1	Missing in SMEI. Ref.22		VAR_029719
	Natural variant	1773	1	S → F in SMEI. Ref.31 Corresponds to variant rs121917951 [ dbSNP | Ensembl ].		VAR_064329
	Natural variant	1780	1	M → T in SMEI. Ref.20 Ref.31 Corresponds to variant rs121917952 [ dbSNP | Ensembl ].		VAR_029720
	Natural variant	1781	1	Y → C in SMEI. Ref.22 Corresponds to variant rs121918779 [ dbSNP | Ensembl ].		VAR_029721
	Natural variant	1782	1	I → M in SMEI. Ref.52 Corresponds to variant rs121918763 [ dbSNP | Ensembl ].		VAR_064274
	Natural variant	1783	1	A → T in SMEI. Ref.50 Ref.51 Corresponds to variant rs121917980 [ dbSNP | Ensembl ].		VAR_064275
	Natural variant	1783	1	A → V in SMEI. Ref.36 Corresponds to variant rs121917921 [ dbSNP | Ensembl ].		VAR_064345
	Natural variant	1787	1	E → K in SMEI. Ref.36 Corresponds to variant rs121917916 [ dbSNP | Ensembl ].		VAR_064330
	Natural variant	1795	1	E → K in GEFS+2. Ref.53 Corresponds to variant rs121918813 [ dbSNP | Ensembl ].		VAR_064276
	Natural variant	1807 – 1810	4	Missing in SMEI.		VAR_029722
	Natural variant	1808	1	F → L in ICEGTC. Ref.15 Corresponds to variant rs121918757 [ dbSNP | Ensembl ].		VAR_029723
	Natural variant	1812 – 1815	4	WEKF → C in SMEI.		VAR_029725
	Natural variant	1812	1	W → G in SMEI. Ref.15 Corresponds to variant rs121918751 [ dbSNP | Ensembl ].		VAR_029724
	Natural variant	1831	1	F → S in SMEI. Ref.15 Corresponds to variant rs121918748 [ dbSNP | Ensembl ].		VAR_029726
	Natural variant	1852	1	M → T in GEFS+2. Ref.16 Corresponds to variant rs121918783 [ dbSNP | Ensembl ].		VAR_029727
	Natural variant	1857	1	V → L in GEFS+2. Ref.26 Corresponds to variant rs121918814 [ dbSNP | Ensembl ].		VAR_057999
	Natural variant	1866	1	D → Y in GEFS+2; causes a positive shift in the voltage dependence of sodium channel fast inactivation; causes an increase in the magnitude of the persistent current and a delay in the kinetics of inactivation. Ref.23 Corresponds to variant rs121918815 [ dbSNP | Ensembl ].		VAR_058000
	Natural variant	1881	1	E → D in SMEI. Ref.21 Corresponds to variant rs121918804 [ dbSNP | Ensembl ].		VAR_029728
	Natural variant	1909	1	T → I in SMEI. Ref.14 Corresponds to variant rs121918793 [ dbSNP | Ensembl ].		VAR_029729
	Natural variant	1922	1	I → T in SMEI. Ref.35 Corresponds to variant rs121917981 [ dbSNP | Ensembl ].		VAR_064351
	Natural variant	1928	1	R → G. Ref.9 Ref.40 Corresponds to variant rs121917956 [ dbSNP | Ensembl ].		VAR_043371
	Natural variant	1955	1	I → T Associated with autism. Ref.19		VAR_029730
	Natural variant	1957	1	E → G in infantile spasms. Ref.21 Corresponds to variant rs121918802 [ dbSNP | Ensembl ].		VAR_029731
Experimental info
	Sequence conflict	670	1	E → G in AAK00217. Ref.2
	Sequence conflict	746	1	L → S in AAK00217. Ref.2
	Sequence conflict	930	1	P → PQ in AAK00217. Ref.2
	Sequence conflict	1158 – 1161	4	DIGA → GHRR in AAK00217. Ref.2
	Sequence conflict	1537	1	F → L in CAA46439. Ref.7
	Sequence conflict	1537	1	F → L in M91803. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 8, 2000. Version 2. Checksum: 0593A6730F33C9A2	FASTA	2,009	228,972
	10 20 30 40 50 60 MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 310 320 330 340 350 360 NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 370 380 390 400 410 420 GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 430 440 450 460 470 480 VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 490 500 510 520 530 540 DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 550 560 570 580 590 600 NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 610 620 630 640 650 660 NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP 670 680 690 700 710 720 TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL 730 740 750 760 770 780 TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL 790 800 810 820 830 840 NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV 850 860 870 880 890 900 TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII 910 920 930 940 950 960 VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM 970 980 990 1000 1010 1020 EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH 1030 1040 1050 1060 1070 1080 KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN 1090 1100 1110 1120 1130 1140 GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE 1150 1160 1170 1180 1190 1200 SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR 1210 1220 1230 1240 1250 1260 GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT 1270 1280 1290 1300 1310 1320 YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA 1330 1340 1350 1360 1370 1380 LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT 1390 1400 1410 1420 1430 1440 TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA 1450 1460 1470 1480 1490 1500 AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM 1510 1520 1530 1540 1550 1560 TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV 1570 1580 1590 1600 1610 1620 ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF 1630 1640 1650 1660 1670 1680 LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV 1690 1700 1710 1720 1730 1740 MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD 1750 1760 1770 1780 1790 1800 CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL 1810 1820 1830 1840 1850 1860 SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD 1870 1880 1890 1900 1910 1920 RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV 1930 1940 1950 1960 1970 1980 IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA 1990 2000 ACPPSYDRVT KPIVEKHEQE GKDEKAKGK
	Isoform 2 [UniParc]. Checksum: 44B35678ED6346A8	FASTA	1,998	227,789
	10 20 30 40 50 60 MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 310 320 330 340 350 360 NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 370 380 390 400 410 420 GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 430 440 450 460 470 480 VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 490 500 510 520 530 540 DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 550 560 570 580 590 600 NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 610 620 630 640 650 660 NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP 670 680 690 700 710 720 TSPVGQLLPE GTTTETEMRK RRSSSFHVSM DFLEDPSQRQ RAMSIASILT NTVEELEESR 730 740 750 760 770 780 QKCPPCWYKF SNIFLIWDCS PYWLKVKHVV NLVVMDPFVD LAITICIVLN TLFMAMEHYP 790 800 810 820 830 840 MTDHFNNVLT VGNLVFTGIF TAEMFLKIIA MDPYYYFQEG WNIFDGFIVT LSLVELGLAN 850 860 870 880 890 900 VEGLSVLRSF RLLRVFKLAK SWPTLNMLIK IIGNSVGALG NLTLVLAIIV FIFAVVGMQL 910 920 930 940 950 960 FGKSYKDCVC KIASDCQLPR WHMNDFFHSF LIVFRVLCGE WIETMWDCME VAGQAMCLTV 970 980 990 1000 1010 1020 FMMVMVIGNL VVLNLFLALL LSSFSADNLA ATDDDNEMNN LQIAVDRMHK GVAYVKRKIY 1030 1040 1050 1060 1070 1080 EFIQQSFIRK QKILDEIKPL DDLNNKKDSC MSNHTAEIGK DLDYLKDVNG TTSGIGTGSS 1090 1100 1110 1120 1130 1140 VEKYIIDESD YMSFINNPSL TVTVPIAVGE SDFENLNTED FSSESDLEES KEKLNESSSS 1150 1160 1170 1180 1190 1200 SEGSTVDIGA PVEEQPVVEP EETLEPEACF TEGCVQRFKC CQINVEEGRG KQWWNLRRTC 1210 1220 1230 1240 1250 1260 FRIVEHNWFE TFIVFMILLS SGALAFEDIY IDQRKTIKTM LEYADKVFTY IFILEMLLKW 1270 1280 1290 1300 1310 1320 VAYGYQTYFT NAWCWLDFLI VDVSLVSLTA NALGYSELGA IKSLRTLRAL RPLRALSRFE 1330 1340 1350 1360 1370 1380 GMRVVVNALL GAIPSIMNVL LVCLIFWLIF SIMGVNLFAG KFYHCINTTT GDRFDIEDVN 1390 1400 1410 1420 1430 1440 NHTDCLKLIE RNETARWKNV KVNFDNVGFG YLSLLQVATF KGWMDIMYAA VDSRNVELQP 1450 1460 1470 1480 1490 1500 KYEESLYMYL YFVIFIIFGS FFTLNLFIGV IIDNFNQQKK KFGGQDIFMT EEQKKYYNAM 1510 1520 1530 1540 1550 1560 KKLGSKKPQK PIPRPGNKFQ GMVFDFVTRQ VFDISIMILI CLNMVTMMVE TDDQSEYVTT 1570 1580 1590 1600 1610 1620 ILSRINLVFI VLFTGECVLK LISLRHYYFT IGWNIFDFVV VILSIVGMFL AELIEKYFVS 1630 1640 1650 1660 1670 1680 PTLFRVIRLA RIGRILRLIK GAKGIRTLLF ALMMSLPALF NIGLLLFLVM FIYAIFGMSN 1690 1700 1710 1720 1730 1740 FAYVKREVGI DDMFNFETFG NSMICLFQIT TSAGWDGLLA PILNSKPPDC DPNKVNPGSS 1750 1760 1770 1780 1790 1800 VKGDCGNPSV GIFFFVSYII ISFLVVVNMY IAVILENFSV ATEESAEPLS EDDFEMFYEV 1810 1820 1830 1840 1850 1860 WEKFDPDATQ FMEFEKLSQF AAALEPPLNL PQPNKLQLIA MDLPMVSGDR IHCLDILFAF 1870 1880 1890 1900 1910 1920 TKRVLGESGE MDALRIQMEE RFMASNPSKV SYQPITTTLK RKQEEVSAVI IQRAYRRHLL 1930 1940 1950 1960 1970 1980 KRTVKQASFT YNKNKIKGGA NLLIKEDMII DRINENSITE KTDLTMSTAA CPPSYDRVTK 1990 PIVEKHEQEG KDEKAKGK
	Isoform 3 [UniParc]. Checksum: 6F4BAFB6F60F62DB	FASTA	1,981	226,174
	10 20 30 40 50 60 MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 70 80 90 100 110 120 LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 130 140 150 160 170 180 AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 190 200 210 220 230 240 EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 250 260 270 280 290 300 IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 310 320 330 340 350 360 NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 370 380 390 400 410 420 GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 430 440 450 460 470 480 VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 490 500 510 520 530 540 DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 550 560 570 580 590 600 NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 610 620 630 640 650 660 NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLGTTTETE 670 680 690 700 710 720 MRKRRSSSFH VSMDFLEDPS QRQRAMSIAS ILTNTVEELE ESRQKCPPCW YKFSNIFLIW 730 740 750 760 770 780 DCSPYWLKVK HVVNLVVMDP FVDLAITICI VLNTLFMAME HYPMTDHFNN VLTVGNLVFT 790 800 810 820 830 840 GIFTAEMFLK IIAMDPYYYF QEGWNIFDGF IVTLSLVELG LANVEGLSVL RSFRLLRVFK 850 860 870 880 890 900 LAKSWPTLNM LIKIIGNSVG ALGNLTLVLA IIVFIFAVVG MQLFGKSYKD CVCKIASDCQ 910 920 930 940 950 960 LPRWHMNDFF HSFLIVFRVL CGEWIETMWD CMEVAGQAMC LTVFMMVMVI GNLVVLNLFL 970 980 990 1000 1010 1020 ALLLSSFSAD NLAATDDDNE MNNLQIAVDR MHKGVAYVKR KIYEFIQQSF IRKQKILDEI 1030 1040 1050 1060 1070 1080 KPLDDLNNKK DSCMSNHTAE IGKDLDYLKD VNGTTSGIGT GSSVEKYIID ESDYMSFINN 1090 1100 1110 1120 1130 1140 PSLTVTVPIA VGESDFENLN TEDFSSESDL EESKEKLNES SSSSEGSTVD IGAPVEEQPV 1150 1160 1170 1180 1190 1200 VEPEETLEPE ACFTEGCVQR FKCCQINVEE GRGKQWWNLR RTCFRIVEHN WFETFIVFMI 1210 1220 1230 1240 1250 1260 LLSSGALAFE DIYIDQRKTI KTMLEYADKV FTYIFILEML LKWVAYGYQT YFTNAWCWLD 1270 1280 1290 1300 1310 1320 FLIVDVSLVS LTANALGYSE LGAIKSLRTL RALRPLRALS RFEGMRVVVN ALLGAIPSIM 1330 1340 1350 1360 1370 1380 NVLLVCLIFW LIFSIMGVNL FAGKFYHCIN TTTGDRFDIE DVNNHTDCLK LIERNETARW 1390 1400 1410 1420 1430 1440 KNVKVNFDNV GFGYLSLLQV ATFKGWMDIM YAAVDSRNVE LQPKYEESLY MYLYFVIFII 1450 1460 1470 1480 1490 1500 FGSFFTLNLF IGVIIDNFNQ QKKKFGGQDI FMTEEQKKYY NAMKKLGSKK PQKPIPRPGN 1510 1520 1530 1540 1550 1560 KFQGMVFDFV TRQVFDISIM ILICLNMVTM MVETDDQSEY VTTILSRINL VFIVLFTGEC 1570 1580 1590 1600 1610 1620 VLKLISLRHY YFTIGWNIFD FVVVILSIVG MFLAELIEKY FVSPTLFRVI RLARIGRILR 1630 1640 1650 1660 1670 1680 LIKGAKGIRT LLFALMMSLP ALFNIGLLLF LVMFIYAIFG MSNFAYVKRE VGIDDMFNFE 1690 1700 1710 1720 1730 1740 TFGNSMICLF QITTSAGWDG LLAPILNSKP PDCDPNKVNP GSSVKGDCGN PSVGIFFFVS 1750 1760 1770 1780 1790 1800 YIIISFLVVV NMYIAVILEN FSVATEESAE PLSEDDFEMF YEVWEKFDPD ATQFMEFEKL 1810 1820 1830 1840 1850 1860 SQFAAALEPP LNLPQPNKLQ LIAMDLPMVS GDRIHCLDIL FAFTKRVLGE SGEMDALRIQ 1870 1880 1890 1900 1910 1920 MEERFMASNP SKVSYQPITT TLKRKQEEVS AVIIQRAYRR HLLKRTVKQA SFTYNKNKIK 1930 1940 1950 1960 1970 1980 GGANLLIKED MIIDRINENS ITEKTDLTMS TAACPPSYDR VTKPIVEKHE QEGKDEKAKG K

References

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[1]	"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2." Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., Malafosse A. Nat. Genet. 24:343-345(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GEFS+2 MET-875 AND HIS-1648.
[2]	"Cloning of cDNA for human voltage-gated sodium channel alpha subunit, SCN1A." Jeong S.-Y., Goto J., Kanazawa I. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"Homo sapiens neuronal voltage-gated sodium channel type I (Nav1.1) mRNA." Sugawara T., Mazaki E.M., Yamakawa K. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Brain.
[4]	"Isoforms of human sodium channel SCN1A gene." Ouchida M., Ohmori I. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT THR-1067, ALTERNATIVE SPLICING. Tissue: Brain.
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24." Malo M.S., Blanchard B.J., Andresen J.M., Srivastava K., Chen X.N., Li X., Jabs E.W., Korenberg J.R., Ingram V.M. Cytogenet. Cell Genet. 67:178-186(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1335-1428.
[7]	"Differential expression of two sodium channel subtypes in human brain." Lu C.-M., Han J., Rado T.A., Brown G.B. FEBS Lett. 303:53-58(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1518-1940. Tissue: Brain.
[8]	"Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels." Wang C., Wang C., Hoch E.G., Pitt G.S. J. Biol. Chem. 286:24253-24263(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FGF13.
[9]	"Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus." Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R., George A.L. Jr., Mulley J.C., Berkovic S.F. Am. J. Hum. Genet. 68:859-865(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GEFS+2 VAL-188; LEU-1353 AND MET-1656, VARIANTS THR-1067 AND GLY-1928.
[10]	"A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy." Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. Am. J. Hum. Genet. 68:866-873(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 ARG-1204.
[11]	"De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy." Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. Am. J. Hum. Genet. 68:1327-1332(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMEI PHE-986.
[12]	"Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures." Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G., Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K. Neurology 57:703-705(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GEFS+2 ALA-1428 AND VAL-1685.
[13]	"Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation." Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R., Haines J.L., Sutcliffe J.S., George A.L. Jr. Neurology 57:2265-2272(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 THR-1270.
[14]	"Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy." Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K. Biochem. Biophys. Res. Commun. 295:17-23(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390; ARG-1434; ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909, VARIANT THR-1067.
[15]	"Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures." Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K., Inoue Y. Brain 126:531-546(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI GLY-103; ILE-112; TRP-265; ASP-343; VAL-960; ILE-985; ARG-1231; LEU-1263; ASP-1685; 1807-MET--GLU-1810 DEL; GLY-1812 AND SER-1831, VARIANTS ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; SER-1632; ILE-1709 AND LEU-1808, VARIANT THR-1067.
[16]	"Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus." Annesi G., Gambardella A., Carrideo S., Incorpora G., Labate A., Pasqua A.A., Civitelli D., Polizzi A., Annesi F., Spadafora P., Tarantino P., Ciro Candiano I.C., Romeo N., De Marco E.V., Ventura P., LePiane E., Zappia M., Aguglia U., Pavone L., Quattrone A. Epilepsia 44:1257-1258(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GEFS+2 CYS-790 AND THR-1852.
[17]	"De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy." Claes L., Ceulemans B., Audenaert D., Smets K., Loefgren A., Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe P. Hum. Mutat. 21:615-621(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND GLU-1749.
[18]	"Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A." Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S., Devinsky O., George A.L. Jr. J. Neurosci. 23:11289-11295(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 CYS-1657, CHARACTERIZATION OF VARIANTS GEFS+2 LEU-1353; MET-1656; CYS-1657 AND VAL-1685, CHARACTERIZATION OF VARIANT SMEI PHE-986.
[19]	"Sodium channels SCN1A, SCN2A and SCN3A in familial autism." Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., Meisler M.H. Mol. Psychiatry 8:186-194(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955.
[20]	"Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy." Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M., Fontana E., Gaggero R., Granata T., Guerrini R., Loi M., La Selva L., Lispi M.L., Matricardi A. , Romeo A., Tzolas V., Valseriati D., Veggiotti P., Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A., Zara F. Neurology 60:1961-1967(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426; ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND 1812-TRP--LYS-1815 DELINS CYS.
[21]	"Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms." Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R., Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M., Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E. Neurology 61:765-769(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI PRO-1326 AND ASP-1881, VARIANT INFANTILE SPASMS GLY-1957.
[22]	"Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)." Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S., Ohfu M., Inoue T., Watanachai A., Kira R., Matsuo M., Muranaka H., Sofue F., Zhang B., Kaneko S., Mitsudome A., Hirose S. Epilepsia 45:140-148(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI GLN-101; ARG-190; ILE-934; ALA-944; CYS-946; HIS-946; PRO-1355; MET-1559 DEL; SER-1692; CYS-1694; PHE-1766 DEL AND CYS-1781.
[23]	"A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction." Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A., Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P., Montalenti E., Isom L.L., Goldin A.L., Meisler M.H. J. Neurosci. 24:10022-10034(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 TYR-1866, CHARACTERIZATION OF VARIANT GEFS+2 TYR-1866.
[24]	"Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy." Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G. Pediatr. Neurol. 30:236-243(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMEI ASN-252.
[25]	"A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures." Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y., Tateno A., Hachimori K., Yamakawa K., Segawa M. Brain Dev. 27:424-430(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMEI ASN-1713, VARIANT THR-1067.
[26]	"A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures." Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T., Yamakawa K. Epilepsy Res. 63:151-156(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 LEU-1857.
[27]	"Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine." Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M.J.M., Pusch M., Strom T.M. Lancet 366:371-377(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FHM3 LYS-1489.
[28]	"SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures." Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B., Hahn A., Hauser E., Hundt K., Holthausen H., Mueller U., Neubauer B.A. Neuropediatrics 36:210-213(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMEI SER-946.
[29]	"Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures." Mantegazza M., Gambardella A., Rusconi R., Schiavon E., Annesi F., Cassulini R.R., Labate A., Carrideo S., Chifari R., Canevini M.P., Canger R., Franceschetti S., Annesi G., Wanke E., Quattrone A. Proc. Natl. Acad. Sci. U.S.A. 102:18177-18182(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FEB3A THR-145, CHARACTERIZATION OF VARIANT FEB3A THR-145.
[30]	"A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree." Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C., Cabrera D., Bedoya G., Ruiz-Linares A. Seizure 14:123-128(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 GLY-1742.
[31]	"Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations." Mancardi M.M., Striano P., Gennaro E., Madia F., Paravidino R., Scapolan S., Dalla Bernardina B., Bertini E., Bianchi A., Capovilla G., Darra F., Elia M., Freri E., Gobbi G., Granata T., Guerrini R., Pantaleoni C., Parmeggiani A. , Romeo A., Santucci M., Vecchi M., Veggiotti P., Vigevano F., Pistorio A., Gaggero R., Zara F. Epilepsia 47:1629-1635(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI ASP-78; PRO-162; ASN-194; LYS-217; SER-227; ARG-280; LEU-383; CYS-393; SER-393; ASN-426; ARG-812; LYS-846; PRO-942; ARG-1233; GLN-1245; CYS-1422; ARG-1426; LEU-1451; SER-1463; SER-1475; ALA-1668; ARG-1714; GLU-1762; PHE-1773 AND THR-1780.
[32]	"An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability." Barela A.J., Waddy S.P., Lickfett J.G., Hunter J., Anido A., Helmers S.L., Goldin A.L., Escayg A. J. Neurosci. 26:2714-2723(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 CYS-859, CHARACTERIZATION OF VARIANT GEFS+2 CYS-859.
[33]	"De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study." Berkovic S.F., Harkin L., McMahon J.M., Pelekanos J.T., Zuberi S.M., Wirrell E.C., Gill D.S., Iona X., Mulley J.C., Scheffer I.E. Lancet Neurol. 5:488-492(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI LEU-403; ASN-413; HIS-946; ASP-1238; GLY-1396 AND GLN-1645.
[34]	"Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy." Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A., Ramachandrannair R., Elterman R.D., Muhle H., Reinsdorf J., Shields W.D., Meisler M.H., Escayg A. Pediatr. Neurol. 34:116-120(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMEI THR-1231.
[35]	"The spectrum of SCN1A-related infantile epileptic encephalopathies." The infantile epileptic encephalopathy referral consortium Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., Seltzer W.K. , Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E. Brain 130:843-852(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CYS-393; PRO-395; GLU-422; GLY-626; VAL-973; VAL-1480; SER-1543; CYS-1596; GLN-1636 AND HIS-1657, VARIANTS SMEI HIS-79; CYS-84; TRP-101; ARG-199; MET-226; THR-239; LEU-403; ASN-413; PRO-783; GLU-944; LEU-945; GLU-950; ASP-1238; MET-1390; GLY-1396; PRO-1441; VAL-1545; GLN-1645; VAL-1707; ARG-1721 AND THR-1922.
[36]	"Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities." Marini C., Mei D., Temudo T., Ferrari A.R., Buti D., Dravet C., Dias A.I., Moreira A., Calado E., Seri S., Neville B., Narbona J., Reid E., Michelucci R., Sicca F., Cross H.J., Guerrini R. Epilepsia 48:1678-1685(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI GLN-101; ILE-322; GLY-356; THR-358; CYS-393; HIS-393; LEU-957; TYR-1414; TRP-1470; ARG-1588; TYR-1608; MET-1630; ARG-1658; ARG-1716; VAL-1783 AND LYS-1787, VARIANTS GEFS+2 PRO-74; ARG-1204 AND SER-1687.
[37]	"Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation." Osaka H., Ogiwara I., Mazaki E., Okamura N., Yamashita S., Iai M., Yamada M., Kurosawa K., Iwamoto H., Yasui-Furukori N., Kaneko S., Fujiwara T., Inoue Y., Yamakawa K. Epilepsy Res. 75:46-51(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 ILE-1366, VARIANT ICEGTC ILE-1366.
[38]	"The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online." Vanmolkot K.R., Babini E., de Vries B., Stam A.H., Freilinger T., Terwindt G.M., Norris L., Haan J., Frants R.R., Ramadan N.M., Ferrari M.D., Pusch M., van den Maagdenberg A.M., Dichgans M. Hum. Mutat. 28:522-522(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FHM3 GLN-1649.
[39]	"Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3." Gargus J.J., Tournay A. Pediatr. Neurol. 37:407-410(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FHM3 SER-1174.
[40]	"Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified." Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M., Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G., Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R., Bresolin N., Bassi M.T. Arch. Neurol. 65:489-494(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI SER-118; GLU-366; PRO-1207; MET-1335; SER-1358 AND CYS-1462, VARIANT GEFS+2 GLN-377, VARIANT GLY-1928.
[41]	"Rasmussen encephalitis associated with SCN 1 A mutation." Ohmori I., Ouchida M., Kobayashi K., Jitsumori Y., Inoue T., Shimizu K., Matsui H., Ohtsuka Y., Maegaki Y. Epilepsia 49:521-526(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CYS-1575.
[42]	"Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population." Lakhan R., Kumari R., Misra U.K., Kalita J., Pradhan S., Mittal B. Br. J. Clin. Pharmacol. 68:214-220(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT THR-1067.
[43]	"Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations." Vahedi K., Depienne C., Le Fort D., Riant F., Chaine P., Trouillard O., Gaudric A., Morris M.A., LeGuern E., Tournier-Lasserve E., Bousser M.-G. Neurology 72:1178-1183(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FHM3 HIS-1489 AND LEU-1499.
[44]	"Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A." Mahoney K., Moore S.J., Buckley D., Alam M., Parfrey P., Penney S., Merner N., Hodgkinson K., Young T.L. Seizure 18:492-497(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 HIS-388.
[45]	"Two novel mutations in SCN1A gene in Iranian patients with epilepsy." Ebrahimi A., Houshmand M., Tonekaboni S.H., Fallah Mahboob Passand M.S., Zainali S., Moghadasi M. Arch. Med. Res. 41:207-214(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT THR-1067.
[46]	"Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients." Herini E.S., Gunadi Harahap I.S., Yusoff S., Morikawa S., Patria S.Y., Nishimura N., Sunartini Sutaryo S., Takada S., Matsuo M., Nishio H. Epilepsy Res. 90:132-139(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI ILE-1612 AND GLY-1756.
[47]	"Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation." Nishri D., Blumkin L., Lev D., Leshinsky-Silver E., Abu-Rashid M., Birch R., Zuberi S.M., Lerman-Sagie T. Eur. J. Paediatr. Neurol. 14:456-459(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLU-1637.
[48]	"Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI)." Arlier Z., Bayri Y., Kolb L.E., Erturk O., Ozturk A.K., Bayrakli F., Bilguvar K., Moliterno J.A., Dervent A., Demirbilek V., Yalcinkaya C., Korkmaz B., Tuysuz B., Gunel M. J. Child Neurol. 25:1265-1268(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI GLN-862 AND LYS-954.
[49]	"Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)." Nicita F., Spalice A., Papetti L., Ursitti F., Parisi P., Gennaro E., Zara F., Iannetti P. J. Child Neurol. 25:1369-1376(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 THR-27, VARIANTS SMEI LEU-63; VAL-239; ASP-1308 AND ARG-1433.
[50]	"Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome." Sun H., Zhang Y., Liu X., Ma X., Yang Z., Qin J., Jiang Y., Qi Y., Wu X. J. Hum. Genet. 55:421-427(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI SER-90; THR-91; TRP-101; GLN-101; THR-239; ARG-259; HIS-393; TYR-939; GLY-952; LYS-1210; PRO-1260; PRO-1287; MET-1335; MET-1390; GLU-1433; GLU-1586 AND THR-1783.
[51]	"De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin." Heron S.E., Scheffer I.E., Iona X., Zuberi S.M., Birch R., McMahon J.M., Bruce C.M., Berkovic S.F., Mulley J.C. J. Med. Genet. 47:137-141(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI CYS-84; GLN-101; LYS-171; THR-175; ASN-194; SER-227; PHE-406; ASN-413; HIS-604; PRO-783; GLU-944; LEU-945; HIS-946; GLU-950; GLY-1396; LYS-1450; VAL-1545; GLN-1645; ARG-1726 AND THR-1783, VARIANTS GLN-1636 AND HIS-1657.
[52]	"Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome." Depienne C., Trouillard O., Gourfinkel-An I., Saint-Martin C., Bouteiller D., Graber D., Barthez-Carpentier M.A., Gautier A., Villeneuve N., Dravet C., Livet M.O., Rivier-Ringenbach C., Adam C., Dupont S., Baulac S., Heron D., Nabbout R., Leguern E. J. Med. Genet. 47:404-410(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI ASN-124; TYR-191; LYS-875; LYS-1367; SER-1514; HIS-1648; MET-1658; LYS-1664 AND MET-1782.
[53]	"Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus." Li N., Zhang J., Guo J.F., Yan X.X., Xia K., Tang B.S. Neurosci. Lett. 480:211-214(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 LYS-1795.
[54]	"Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy." Herini E.S., Gunadi H., van Kempen M.J., Yusoff S., Sutaryo S., Patria S.Y., Matsuo M., Lindhout D., Nishio H. Pediatr. Int. 52:234-239(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMEI ILE-1612 AND GLY-1756.
[55]	"Generalized epilepsy with febrile seizures plus: novel SCN1A mutation." Dimova P.S., Yordanova I., Bojinova V., Jordanova A., Kremenski I. Pediatr. Neurol. 42:137-140(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GEFS+2 PHE-1309.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF225985 mRNA. Translation: AAK00217.1. AY043484 mRNA. Translation: AAK95360.1. AB093548 mRNA. Translation: BAC21101.1. AB093549 mRNA. Translation: BAC21102.1. AB098335 mRNA. Translation: BAC45228.1. AC010127 Genomic DNA. Translation: AAX81984.1. S71446 Genomic DNA. Translation: AAB31605.1. X65362 mRNA. Translation: CAA46439.1. M91803 mRNA. No translation available.
IPI	IPI00018934. IPI00748990. IPI00917812.
PIR	I52964. S29184.
RefSeq	NP_001159435.1. NM_001165963.1. NP_001159436.1. NM_001165964.1. NP_001189364.1. NM_001202435.1. NP_008851.3. NM_006920.4.
UniGene	Hs.22654.
3D structure databases
ProteinModelPortal	P35498.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-59851N.
IntAct	P35498. 1 interaction.
STRING	9606.ENSP00000364554.
Protein family/group databases
TCDB	1.A.1.10.7. voltage-gated ion channel (VIC) superfamily.
PTM databases
PhosphoSite	P35498.
Polymorphism databases
DMDM	12644229.
Proteomic databases
PaxDb	P35498.
PRIDE	P35498.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303395; ENSP00000303540; ENSG00000144285. ENST00000375405; ENSP00000364554; ENSG00000144285. ENST00000409050; ENSP00000386312; ENSG00000144285. ENST00000423058; ENSP00000407030; ENSG00000144285.
GeneID	6323.
KEGG	hsa:6323.
UCSC	uc002udo.4. human. uc021vsb.1. human.
Organism-specific databases
CTD	6323.
GeneCards	GC02M166809.
HGNC	HGNC:10585. SCN1A.
HPA	HPA034686.
MIM	182389. gene. 604403. phenotype. 607208. phenotype. 609634. phenotype.
neXtProt	NX_P35498.
Orphanet	33069. Dravet syndrome. 569. Familial or sporadic hemiplegic migraine. 36387. Generalized epilepsy with febrile seizures-plus context. 293181. Malignant migrating partial seizures of infancy.
PharmGKB	PA301.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1226.
HOGENOM	HOG000231755.
HOVERGEN	HBG053100.
InParanoid	P35498.
KO	K04833.
OMA	TVFEFDW.
OrthoDB	EOG4Z36CT.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
ArrayExpress	P35498.
Bgee	P35498.
CleanEx	HS_SCN1A.
Genevestigator	P35498.
GermOnline	ENSG00000144285. Homo sapiens.
Family and domain databases
InterPro	IPR024583. DUF3451. IPR005821. Ion_trans_dom. IPR000048. IQ_motif_EF-hand-BS. IPR008051. Na_channel_a1su. IPR001696. Na_channel_asu. IPR010526. Na_trans_assoc. [Graphical view]
Pfam	PF11933. DUF3451. 1 hit. PF00520. Ion_trans. 4 hits. PF06512. Na_trans_assoc. 1 hit. [Graphical view]
PRINTS	PR00170. NACHANNEL. PR01664. NACHANNEL1.
SMART	SM00015. IQ. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. False negative. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P35498.
ChEMBL	CHEMBL1845.
DrugBank	DB00555. Lamotrigine. DB01202. Levetiracetam. DB01121. Phenacemide. DB00252. Phenytoin. DB00273. Topiramate. DB00909. Zonisamide.
GenomeRNAi	6323.
NextBio	24538.
SOURCE	Search...

Entry information

Entry name

SCN1A_HUMAN

Accession

Primary (citable) accession number: P35498
Secondary accession number(s): E9PG49 , Q16172, Q585T7, Q8IUJ6, Q96LA3, Q9C008

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	December 8, 2000
Last modified:	May 1, 2013
This is version 144 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.