| vroeg-infantiele epileptische encefalopathie type 13 (aandoening) |
| vroeg-infantiele epileptische encefalopathie type 13 |
| SCN8A-gerelateerde epilepsie met encefalopathie
SCN8A-encefalopathie
EIEE type 13
'sodium voltage-gated channel alpha subunit 8'-gerelateerde epilepsie met encefalopathie
|
| SCN8A developmental and epileptic encephalopathy |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy
SCN8A-DEE - SCN8A - developmental and epileptic encephalopathy
SCN8A-DEE - sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy
|
| Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be drug-resistant and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo variant. |
