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- W2043059428 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." @default.
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- W2043059428 date "2013-01-01" @default.
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- W2043059428 title "Do mutations in SCN1B cause Dravet syndrome?" @default.
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- W2043059428 doi "https://doi.org/10.1016/j.eplepsyres.2012.10.009" @default.
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