Publication
Title
Do mutations in **SCN1B** cause Dravet syndrome?
Author
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.
Language
French, English
Source (journal)
Epilepsy research. - Amsterdam
Publication
Amsterdam : 2013
ISSN
0920-1211
Volume/pages
103:1(2013), p. 97-100
ISI
000314263800010
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.02.2013
Last edited 16.11.2017
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