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Title: Do mutations in SCN1B cause Dravet syndrome?
Austin Authors: Kim, Young Ok;Dibbens, Leanne M;Marini, Carla;Suls, Arvid;Chemaly, Nicole;Mei, Davide;McMahon, Jacinta M;Iona, Xenia;Berkovic, Samuel F ;De Jonghe, Peter;Guerrini, Renzo;Nabbout, Rima;Scheffer, Ingrid E 
Affiliation: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia
Issue Date: 20-Nov-2012
Publication information: Epilepsy Research 2012; 103(1): 97-100
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.
Gov't Doc #: 23182416
DOI: 10.1016/j.eplepsyres.2012.10.009
Type: Journal Article
Subjects: Child
Child, Preschool
Cohort Studies
Epilepsies, Myoclonic.diagnosis.epidemiology.genetics
Sequence Analysis, DNA.methods
Voltage-Gated Sodium Channel beta-1 Subunit.genetics
Appears in Collections:Journal articles

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