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https://ahro.austin.org.au/austinjspui/handle/1/11614| 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: | https://ahro.austin.org.au/austinjspui/handle/1/11614 | DOI: | 10.1016/j.eplepsyres.2012.10.009 | Journal: | Epilepsy research | URL: | https://pubmed.ncbi.nlm.nih.gov/23182416 | Type: | Journal Article | Subjects: | Child Child, Preschool Cohort Studies Epilepsies, Myoclonic.diagnosis.epidemiology.genetics Female Humans Male Mutation.genetics Sequence Analysis, DNA.methods Voltage-Gated Sodium Channel beta-1 Subunit.genetics |
| Appears in Collections: | Journal articles |
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