Dravet syndrome
Pronunciation: drah-VAY
Also written as: SMEI — Severe myoclonic epilepsy of infancy
A severe genetic epilepsy syndrome beginning in infancy, characterized by prolonged febrile seizures and developmental regression.
Full Definition
Dravet syndrome is a severe genetic epileptic encephalopathy that typically begins in the first year of life with prolonged febrile seizures in a previously normal infant. The condition is usually caused by mutations in the SCN1A gene, which encodes a sodium channel protein. As the syndrome progresses, patients develop multiple seizure types including focal, generalized, and myoclonic seizures, often triggered by fever or photic stimulation. Developmental regression typically occurs in the second year of life, and patients frequently develop intellectual disability, ataxia, and behavioral problems. Treatment is challenging, with sodium channel blockers often being contraindicated.
Usage
Usage note: Named after Charlotte Dravet; formerly called severe myoclonic epilepsy of infancy (SMEI).
In Context
- "Genetic testing confirmed SCN1A mutation consistent with Dravet syndrome in this toddler with refractory epilepsy." — Pediatric neurology consultation
- "The patient's Dravet syndrome required careful medication selection, avoiding sodium channel blockers." — Treatment planning note