SCN8A sodium voltage-gated channel alpha subunit 8

Gene ID: 6334, updated on 3-Nov-2024
Gene type: protein coding
Also known as: MED; PN4; CIAT; BFIS5; DEE13; NaCh6; CERIII; EIEE13; MYOCL2; Nav1.6

Summary

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Cognitive impairment with or without cerebellar ataxia MedGen: C3280415OMIM: 614306GeneReviews: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders	not available
Developmental and epileptic encephalopathy, 13 MedGen: C3281191OMIM: 614558GeneReviews: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders	not available
Myoclonus, familial, 2 MedGen: C5193056OMIM: 618364GeneReviews: Not available	not available
Seizures, benign familial infantile, 5 MedGen: C4310728OMIM: 617080GeneReviews: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders	not available

Genomic context

Location:: 12q13.13

Sequence:: Chromosome: 12; NC_000012.12 (51591233..51812864)

Total number of exons:: 28

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SCN8A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SCN8A @ LOVD
Variation Viewer
Related Variants

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