Dravet syndrome
Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
MONDO:0800490
neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy
is_a
DS
exact
Dravet
exact
Dravet syndrome
exact
SME
exact
SMEB
exact
myoclonic epilepsy, severe, of infancy
exact
severe myoclonic epilepsy of infancy
exact