Dravet syndrome
Pronunciation: drah-VET
A severe genetic epilepsy syndrome beginning in infancy with prolonged febrile seizures and later developing multiple seizure types.
Full Definition
Dravet syndrome, formerly known as severe myoclonic epilepsy of infancy (SMEI), is caused by mutations in the SCN1A gene encoding sodium channels. It typically begins with prolonged febrile seizures in the first year of life, followed by the development of multiple seizure types including myoclonic, absence, and focal seizures. Children experience developmental plateauing or regression, and seizures are often refractory to treatment. The condition requires specialized antiepileptic drug selection as some medications can worsen seizures.
Usage
Usage note: Capitalize as proper noun. Named after Charlotte Dravet who first described the syndrome.
In Context
- "Genetic testing confirmed SCN1A mutation consistent with Dravet syndrome." — Genetics consultation
- "Sodium channel blockers are contraindicated in Dravet syndrome due to seizure exacerbation." — Treatment protocol