Core Features Differentiate Dravet Syndrome from Febrile Seizures

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 sl...

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Bibliographic Details
Published inThe Journal of pediatrics Vol. 258; p. 113416
Main Authors Nordli, Douglas R., Galan, Fernando N.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.07.2023
Subjects
Epilepsies, Myoclonic - diagnosis
Epilepsies, Myoclonic - genetics
Epilepsy - diagnosis
Epilepsy, Generalized
Female
Humans
Infant
Mutation
NAV1.1 Voltage-Gated Sodium Channel - genetics
Seizures, Febrile - diagnosis
SUDEP
DEE
EEG
DS
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2023.113416