full name
sodium voltage-gated channel alpha subunit 8

synonyms
CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4, SCN8A, ENSG00000196876

HGNC
HGNC:10596

Entrez Gene
Gene:6334

ENSEMBL
ENSG00000196876

location
chr: 12
start: 51984050
stop: 52206648
strand: +

OMIM
OMIM:600702: SCN8A (Autosomal dominant inheritance)
OMIM:614306: ?Cognitive impairment with or without cerebellar ataxia
OMIM:614558: Epileptic encephalopathy, early infantile, 13
OMIM:617080: Seizures, benign familial infantile, 5

transcripts
NM_014191.3
NM_001177984.2

pathways
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:11687826] [PUBMED:15084255] [PUBMED:15818466] [PUBMED:12471249] [PUBMED:15363605] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
Cardiac conduction [NCBI:1339115] [REACTOME:R-HSA-5576891] [PUBMED:26140724] [PUBMED:21357845] [PUBMED:19808464]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Interaction between L1 and Ankyrins [NCBI:1270325] [REACTOME:R-HSA-445095] [PUBMED:16904324] [PUBMED:20156840] [PUBMED:18839070] [PUBMED:19356150]
L1CAM interactions [NCBI:1270323] [REACTOME:R-HSA-373760] [PUBMED:9211984] [PUBMED:18760361] [PUBMED:14709786] [PUBMED:17189949] [PUBMED:19356150]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Phase 0 - rapid depolarisation [NCBI:1339117] [REACTOME:R-HSA-5576892] [PUBMED:21357845] [PUBMED:19808464]