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SCN2A - sodium voltage-gated channel alpha subunit 2
- Synonym(s) : HBSCI, HBSCII, Nav1.2
- Previous symbols and names : SCN2A1, SCN2A2, sodium channel, voltage gated, type II alpha subunit, sodium channel, voltage-gated, type II, alpha 1 polypeptide, sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha subunit
- Type : gene with protein product
- Chromosomal location : 2q24.3
- OMIM: 182390
- HGNC: 10588
- UniProtKB: Q99250
- Genatlas: SCN2A
- GenCC: SCN2A
- Ensembl: ENSG00000136531
- IUPHAR-DB: 579
- Reactome: Q99250
- LOVD: SCN2A
Diseases list
- Disease-causing germline mutation(s) in Benign familial infantile epilepsy
ORPHA:306 
- Disease-causing germline mutation(s) in Benign familial neonatal-infantile seizures
ORPHA:140927 - Disease-causing germline mutation(s) in Dravet syndrome
ORPHA:33069 - Disease-causing germline mutation(s) in Infantile spasms syndrome
ORPHA:3451 - Disease-causing germline mutation(s) in Malignant migrating focal seizures of infancy
ORPHA:293181 - Disease-causing germline mutation(s) (gain of function) in Early infantile epileptic encephalopathy
ORPHA:1934 - Candidate gene tested in Generalized epilepsy with febrile seizures-plus
ORPHA:36387
: AssessedAdditional information
Patient-centred resources for this gene
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