/Dravet syndrome

Dravet syndrome

Rare Disease

MONDO:0100135

Also Known As

DSDravetDravet syndromeSMESMEBmyoclonic epilepsy, severe, of infancysevere myoclonic epilepsy of infancy

Definition

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.