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Journal of Pediatric Neurology 2011; 09(03): 401-403
DOI: 10.3233/JPN-2011-0480
Georg Thieme Verlag KG Stuttgart – New York

Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature

Scott Strader
a   Department of Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA
,
Rebecca Benson
b   Department of Pediatrics, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA
,
Charuta Joshi
c   Department of Pediatrics, Division of Pediatric Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA
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Publication History

06 October 2010

09 December 2010

Publication Date:
30 July 2015 (online)

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Abstract

In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.

Keywords

Epilepsy - myoclonic - infantile