Journal article
Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature
Journal of pediatric neurology, Vol.9(3), pp.401-403
09/01/2011
DOI: 10.3233/JPN-2011-0480
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.
Details
- Title: Subtitle
- Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature
- Creators
- Scott Strader - Univ Iowa, Carver Coll Med, Dept Neurol, Iowa City, IA USARebecca Benson - Univ Iowa, Carver Coll Med, Dept Pediat, Iowa City, IA USACharuta Joshi - Univ Iowa, Carver Coll Med, Dept Pediat, Div Pediat Neurol, Iowa City, IA 52242 USA
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric neurology, Vol.9(3), pp.401-403
- Publisher
- Thieme Medical Publishers
- DOI
- 10.3233/JPN-2011-0480
- ISSN
- 1304-2580
- eISSN
- 1305-0613
- Number of pages
- 3
- Language
- English
- Date published
- 09/01/2011
- Academic Unit
- Stead Family Department of Pediatrics; General Pediatrics and Adolescent Medicine
- Record Identifier
- 9984353888902771
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