This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Korff, C. Articles by Nordli, D. Search for Related Content PubMed PubMed Citation Articles by Korff, C. Articles by Nordli, D., Jr Social Bookmarking                         What's this?

Dravet Syndrome (Severe Myoclonic Epilepsy in Infancy): A Retrospective Study of 16 Patients

Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois

Linda Laux, MD

Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois

Kent Kelley, MD

Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois

Joshua Goldstein, MD

Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois

Sookyong Koh, MD, PhD

Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois

Douglas Nordli, Jr, MD

Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois, dnordli{at}childrensmemorial.org

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.

Key Words: Dravet syndrome • genetic testing • SCN1A

Journal of Child Neurology, Vol. 22, No. 2, 185-194 (2007)
DOI: 10.1177/0883073807300294


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				J. J. Millichap, S. Koh, L. C. Laux, and D. R. Nordli Jr Child Neurology: Dravet syndrome: When to suspect the diagnosis Neurology, September 29, 2009; 73(13): e59 - e62. [Abstract] [Full Text] [PDF]

				J. W. Wheless Managing Severe Epilepsy Syndromes of Early Childhood J Child Neurol, August 1, 2009; 24(8_suppl): 24S - 32S. [Abstract] [PDF]

				J. G. Millichap Screening Test for Dravet Syndrome in Infants with Febrile Seizures AAP Grand Rounds, September 1, 2008; 20(3): 30 - 30. [Full Text] [PDF]