Dravet Syndrome

Dravet Syndrome represents one of the most severe forms of childhood-onset epilepsy, caused primarily by loss-of-function mutations in the SCN1A gene. This gene encodes the Nav1.1 alpha subunit of voltage-gated sodium channels essential for neuronal excitability. The disease typically begins with a prolonged febrile seizure, often the first febrile convulsion the child experiences, occurring without warning during a fever. Initial seizures may respond to standard antiepileptic medications, but over months to years, seizures become increasingly frequent and refractory to treatment. Multiple seizure types develop, creating a complex clinical picture. Developmental progress, which may have appeared normal initially, plateaus or regresses. By school age, many children have significant intellectual disability. Behavioral problems including autism spectrum features, aggression, and hyperactivity frequently emerge. Sudden unexpected nocturnal death in epilepsy (SUDEP) represents a significant ongoing risk.