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Do mutations in **SCN1B** cause Dravet syndrome?
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| Abstract |
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| 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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| Language |
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French, English
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| Source (journal) |
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Epilepsy research. - Amsterdam |
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| Publication |
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Amsterdam : 2013
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| ISSN |
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0920-1211
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| Volume/pages |
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103:1(2013), p. 97-100
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| ISI |
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000314263800010
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| Full text (Publisher's DOI) |
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| Full text (publisher's version - intranet only) |
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