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.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Korff C,Laux L,Kelley K,Goldstein J,Koh S,Nordli D Jrdoi
10.1177/0883073807300294subject
Has Abstractpub_date
2007-02-01 00:00:00pages
185-94issue
2eissn
0883-0738issn
1708-8283pii
22/2/185journal_volume
22pub_type
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