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.
Original language | English |
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Pages (from-to) | 97-100 |
Number of pages | 4 |
Journal | Epilepsy Research |
Volume | 103 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 2013 |
Keywords
- Dravet syndrome
- Epileptic encephalopathy
- SCN1B
ASJC Scopus subject areas
- Clinical Neurology
- Neurology