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SCN2A

sodium voltage-gated channel alpha subunit 2

gene with protein productOMIM: 1823908 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)6
Alternating hemiplegia of childhoodORPHA:2131
→
Self-limited neonatal-infantile epilepsyORPHA:140927
→
Self-limited infantile epilepsyORPHA:306
→
Epilepsy of infancy with migrating focal seizuresORPHA:293181
→
Dravet syndromeORPHA:33069
→
Infantile epileptic spasms syndromeORPHA:697160
→
Disease-causing germline mutation(s) (gain of function) in1
Early infantile developmental and epileptic encephalopathyORPHA:1934
→
Ген-кандидат1
Genetic epilepsy with febrile seizure plusORPHA:36387
→
Данные: Orphadata (CC-BY-4.0)