Journal
JOURNAL OF CHILD NEUROLOGY
Volume 22, Issue 2, Pages 185-194Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073807300294
Keywords
Dravet syndrome; genetic testing; SCNIA
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Funding
- NINDS NIH HHS [K02 NS048237] Funding Source: Medline
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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, electroencephalo-graphic findings, genetic (SCNIA 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 SCNIA 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 SCNIA 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.
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