GENE NAME | SCN1A |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000144285 |
ENTREZ ID | 6323 |
UNIPROT ACCESSION NUMBER | P35498 |
GO MOLECULAR FUNCTION | voltage-gated sodium channel activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-5576892; R-HSA-397014; R-HSA-445095; R-HSA-422475; hsa04728; R-HSA-373760; R-HSA-9675108; R-HSA-1266738; R-HSA-5576891 |
2 combinations linked to SCN1A | OLI168; OLI558 |
2 variants linked to SCN1A | SCN1A:c.5054C>T, p.Ala1685Val; SCN1A:c.3899C>T, p.Thr1300Ile |
2 diseases linked to SCN1A | Juvenile myoclonic epilepsy; Generalized epilepsy with febrile seizures-plus |