Dravet syndrome
Pronunciation: drah-VAY
Severe epileptic encephalopathy beginning in infancy, often associated with SCN1A mutations.
Full Definition
A severe form of epileptic encephalopathy that typically begins in the first year of life with prolonged febrile seizures, later progressing to multiple seizure types including myoclonic, focal, and generalized tonic-clonic seizures. The condition is often associated with mutations in the SCN1A gene encoding voltage-gated sodium channels. Children with Dravet syndrome typically show normal early development followed by cognitive decline, behavioral problems, and treatment-resistant epilepsy. The syndrome was previously known as severe myoclonic epilepsy of infancy (SMEI).
Usage
Usage note: Always capitalize 'Dravet' as it is an eponymous syndrome.
In Context
- "Genetic testing confirmed an SCN1A mutation consistent with Dravet syndrome." — Genetic counseling report
- "The patient's seizures remained refractory despite multiple antiepileptic drugs, typical of Dravet syndrome." — Epilepsy clinic note