• Gene id: 6323

Gene Summary

• Gene Symbol: SCN1A   Gene   UCSC   Ensembl
• Aliases: EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI
• Gene name: sodium voltage-gated channel alpha subunit 1
• Alternate names: sodium channel protein type 1 subunit alpha, sodium channel protein type I subunit alpha, sodium channel protein, brain I alpha subunit, sodium channel voltage gated type 1 alpha subunit, sodium channel, voltage-gated, type I, alpha polypeptide, sodium channel,
• Gene location: 2q24.3 (166149160: 165984640)     Exons: 31     NC_000002.12
• Gene summary(Entrez): 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 cha
• OMIM: 182389

KEGG pathways

Pathway id	Pathway name
hsa04728	Dopaminergic synapse

Diseases

Associated diseases	References
Febrile seizures	KEGG:H00783
Hemiplegic migraine	KEGG:H00775
Dravet syndrome	KEGG:H01818
Febrile seizures	KEGG:H00783
Malignant migrating partial seizures in infancy	KEGG:H01815
Hemiplegic migraine	KEGG:H00775
Dravet syndrome	KEGG:H01818
Generalized epilepsy with febrile seizures plus 2	PMID:10742094
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)