SCN8A — sodium voltage-gated channel alpha subunit 8 | MEDLIB

gene with protein productOMIM: 6007024 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)2

Autosomal dominant non-syndromic intellectual disabilityORPHA:178469

Familial infantile myoclonic epilepsyORPHA:352582

Disease-causing germline mutation(s) (gain of function) in2

Self-limited infantile epilepsyORPHA:306

Non-specific early-onset epileptic encephalopathyORPHA:442835

gene with protein productOMIM: 6007024 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)2

Autosomal dominant non-syndromic intellectual disabilityORPHA:178469

Familial infantile myoclonic epilepsyORPHA:352582

Disease-causing germline mutation(s) (gain of function) in2

Self-limited infantile epilepsyORPHA:306

Non-specific early-onset epileptic encephalopathyORPHA:442835