SCN1A Chromosome 2
Sodium voltage-gated channel alpha subunit 1
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What This Gene Does
Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
2q24.3
Ensembl
ENSG00000144285
Associated Conditions (56)
Febrile seizures
familial
3a
carbamazepine response - Dosage
Early-infantile DEE
Inborn genetic diseases
Developmental and epileptic encephalopathy 6B
Migraine
familial hemiplegic
3
Generalized epilepsy with febrile seizures plus
type 2
SCN1A-related disorder
type 1
Severe myoclonic epilepsy in infancy
Focal epilepsy
Autosomal dominant epilepsy
Seizure
Developmental and epileptic encephalopathy
Bilateral tonic-clonic seizure
+36 more conditions
Key Variants
RS3812718
drug response
Febrile seizures, familial, 3a
Drug Response
RS1000651886
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1025532519
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057518252
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057521746
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057522587
Conflicting classifications of pathogenicity
Early-infantile DEE, Inborn genetic diseases, Early-infantile DEE
Health Risk
RS1060502185
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1060502186
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1064795355
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
Health Risk
RS1064797265
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1131691599
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1131691600
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (1884)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS796053094 | Health Risk | Likely pathogenic | Severe myoclonic epilepsy in infancy, Early-infantile DEE, Severe myoclonic epilepsy in infancy |
| RS797045941 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS863225037 | Health Risk | Likely pathogenic | Severe myoclonic epilepsy in infancy, Early-infantile DEE, Severe myoclonic epilepsy in infancy |
| RS878854262 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS886039457 | Health Risk | Likely pathogenic | — |
| RS886041292 | Health Risk | Likely pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS897883046 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS922514173 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1032633248 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1041924436 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1043031572 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1047955739 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1057517958 | Health Risk | Pathogenic | Early-infantile DEE, Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS1057517959 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Early-infantile DEE, Severe myoclonic epilepsy in infancy |
| RS1057518129 | Health Risk | Pathogenic | — |
| RS1057518229 | Health Risk | Pathogenic | — |
| RS1057518243 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1057519529 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1057519531 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Early-infantile DEE, Early-infantile DEE |
| RS1057519534 | Health Risk | Pathogenic | Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS1057521537 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1057523858 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1057524737 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060502182 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060502183 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060502187 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060502188 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060502190 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064793341 | Health Risk | Pathogenic | — |
| RS1064793678 | Health Risk | Pathogenic | — |
| RS1064793803 | Health Risk | Pathogenic | — |
| RS1064794147 | Health Risk | Pathogenic | — |
| RS1064794251 | Health Risk | Pathogenic | — |
| RS1064794252 | Health Risk | Pathogenic | — |
| RS1064794503 | Health Risk | Pathogenic | — |
| RS1064794634 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1064795078 | Health Risk | Pathogenic | — |
| RS1064795735 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1064796087 | Health Risk | Pathogenic | — |
| RS1064796177 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064796213 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064796343 | Health Risk | Pathogenic | — |
| RS1064796714 | Health Risk | Pathogenic | — |
| RS1085307901 | Health Risk | Pathogenic | — |
| RS1131691440 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1131691545 | Health Risk | Pathogenic | — |
| RS1131691581 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1131691675 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1131691693 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1131691793 | Health Risk | Pathogenic | — |