Dravet Syndrome
Dravet syndrome is a severe pediatric epilepsy syndrome, typically caused by mutations in theĀ SCN1A gene, leading to sodium channel dysfunction. Clinically, it presents with prolonged febrile and afebrile seizures beginning in infancy, followed by developmental delay and cognitive impairment. Diagnosis relies on genetic testing, seizure history, and EEG findings. Management includes tailored anticonvulsant therapy, avoidance of sodium channel blockers, and supportive care. Prognosis is poor, with high risk of refractory seizures, developmental delays, and sudden unexpected death in epilepsy (SUDEP).
