full name
sodium voltage-gated channel alpha subunit 1

synonyms
EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI, SCN1A, ENSG00000144285

HGNC
HGNC:10585

Entrez Gene
Gene:6323

ENSEMBL
ENSG00000144285

location
chr: 2
start: 166845670
stop: 167005642
strand: -

OMIM
OMIM:182389: SCN1A (Autosomal dominant inheritance)
OMIM:604403: Epilepsy, generalized, with febrile seizures plus, type 2
OMIM:607208: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
OMIM:604403: Febrile seizures, familial, 3A
OMIM:609634: Migraine, familial hemiplegic, 3

transcripts
NM_001202435.1
NM_001165964.1
NM_006920.4
NM_001165963.1

pathways
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:15084255] [PUBMED:11687826] [PUBMED:15818466] [PUBMED:15363605] [PUBMED:12471249] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
Cardiac conduction [NCBI:1339115] [REACTOME:R-HSA-5576891] [PUBMED:19808464] [PUBMED:26140724] [PUBMED:21357845]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Dopaminergic synapse [NCBI:469199] [KEGG:hsa04728] [PUBMED:20727368] [PUBMED:10433257] [PUBMED:17408758] [PUBMED:15292232] [PUBMED:9457173] [PUBMED:17349698] [PUBMED:15521361] [PUBMED:18353279] [PUBMED:21303898] [PUBMED:19251795] [PUBMED:15381316] [PUBMED:15590733] [PUBMED:20224735] [PUBMED:19138563] [PUBMED:12967774]
Interaction between L1 and Ankyrins [NCBI:1270325] [REACTOME:R-HSA-445095] [PUBMED:19356150] [PUBMED:16904324] [PUBMED:20156840] [PUBMED:18839070]
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]