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Title
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Do mutations in **SCN1B** cause Dravet syndrome?
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Author
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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
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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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