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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||URI:||http://ahro.austin.org.au/austinjspui/handle/1/11614||DOI:||10.1016/j.eplepsyres.2012.10.009||URL:||https://pubmed.ncbi.nlm.nih.gov/23182416||Type:||Journal Article||Subjects:||Child
Sequence Analysis, DNA.methods
Voltage-Gated Sodium Channel beta-1 Subunit.genetics
|Appears in Collections:||Journal articles|
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