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SCN8A - sodium voltage-gated channel alpha subunit 8
- Synonym(s) : CerIII, CIAT, NaCh6, Nav1.6, PN4
- Previous symbols and names : 'sodium channel, voltage gated, type VIII, alpha polypeptide', MED, Sodium channel, voltage gated, type VIII, alpha polypeptide, sodium channel, voltage gated, type VIII alpha subunit, sodium channel, voltage gated, type VIII, alpha subunit
- Type : gene with protein product
- Chromosomal location : 12q13.13
- OMIM: 600702
- HGNC: 10596
- UniProtKB: Q9UQD0
- Genatlas: SCN8A
- GenCC: SCN8A
- Ensembl: ENSG00000196876
- IUPHAR-DB: 583
- Reactome: Q9UQD0
- LOVD: SCN8A
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic intellectual disability
ORPHA:178469 
- Disease-causing germline mutation(s) (gain of function) in Benign familial infantile epilepsy
ORPHA:306 - Disease-causing germline mutation(s) (gain of function) in Infantile convulsions and choreoathetosis
ORPHA:31709 - Disease-causing germline mutation(s) (gain of function) in Non-specific early-onset epileptic encephalopathy
ORPHA:442835
: AssessedAdditional information
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