Dravet syndrome (severe myoclonic epilepsy in infancy): A retrospective study of 16 patients

Christian Korff, Linda Laux, Kent Kelley, Joshua Goldstein, Sookyong Koh, Douglas Nordli

Research output: Contribution to journalArticle

60 Scopus citations

Abstract

To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They analyzed their clinical presentation, electroencephalographic findings, genetic (SCN1A gene) results, and treatment responses and compared the findings to previous reports. The patients presented with all the previously described characteristics of Dravet syndrome. Six of the 7 patients (86%) who were tested for SCN1A mutations had positive results. The best treatment combinations included topiramate, valproate, or the ketogenic diet. Dravet syndrome is a well-defined epileptic syndrome that needs larger recognition, particularly because commercial testing for SCN1A gene mutations is now available in the United States. Despite its reputation for seizure intractability, several treatment options may be particularly helpful, whereas others need to be avoided.

Original languageEnglish (US)
Pages (from-to)185-194
Number of pages10
JournalJournal of child neurology
Volume22
Issue number2
DOIs
StatePublished - Feb 1 2007

Keywords

  • Dravet syndrome
  • Genetic testing
  • SCN1A

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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