Abstract
An 11-month-old girl with febrile seizures and first unprovoked seizures was evaluated in the hospital. Relevant history included developmental delay and strong family history of febrile seizures and migraines. A routine electroencephalogram was performed and was abnormal due to the presence of a slowed posterior dominant rhythm, generalized spike-wave discharges, and multifocal sharp waves. The findings were concerning for a developmental and epileptic encephalopathy. Given the concern for a developmental and epileptic encephalopathy, a next generation sequence epilepsy gene panel was ordered which identified a pathogenic variant in SCN1A. The clinical history, electroencephalogram, and pathogenic variant were compatible with a diagnosis of Dravet syndrome. This Grand Rounds manuscript highlights the thought process, evaluation, differential diagnosis, treatment, and prognosis in Dravet syndrome.
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