SCN1A sodium voltage-gated channel alpha subunit 1
Gene ID: 6323, updated on 17-Jun-2024Gene type: protein coding
Also known as: DEE6; DRVT; FEB3; FHM3; NAC1; SCN1; SMEI; DEE6A; DEE6B; EIEE6; FEB3A; HBSCI; GEFSP2; Nav1.1
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- Go to complete Gene record for SCN1A
- Go to Variation Viewer for SCN1A variants
Summary
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]
Associated conditions
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| Description | Tests |
|---|---|
| Common variants associated with general and MMR vaccine-related febrile seizures. GeneReviews: Not available | |
| Developmental and epileptic encephalopathy 6B | See labs |
| Developmental and epileptic encephalopathy, 6 MedGen: CN293401GeneReviews: SCN1A-Related Seizure Disorders | See labs |
| Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. GeneReviews: Not available | |
| Generalized epilepsy with febrile seizures plus, type 2 | See labs |
| Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 GeneReviews: Not available | |
| Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). GeneReviews: Not available | |
| Migraine, familial hemiplegic, 3 | See labs |
| Severe myoclonic epilepsy in infancy | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2q24.3
- Sequence:
- Chromosome: 2; NC_000002.12 (165984641..166149161, complement)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SCN1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SCN1A gene database
- Variation ViewerRelated Variants
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