Title
Do mutations in **SCN1B** cause Dravet syndrome? Do mutations in **SCN1B** cause Dravet syndrome?
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Amsterdam ,
Subject
Biology
Human medicine
Source (journal)
Epilepsy research. - Amsterdam
Volume/pages
103(2013) :1 , p. 97-100
ISSN
0920-1211
ISI
000314263800010
Carrier
E
Target language
French (fre)
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6 exons of SCN1B. In 54 patients with DS recruited from four centres, no SCN1B mutations were identified. SCN1B mutation is not a common cause of DS.
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