Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11614
Title: Do mutations in SCN1B cause Dravet syndrome?
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
Citation: 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.
Internal ID Number: 23182416
URI: http://ahro.austin.org.au/austinjspui/handle/1/11614
DOI: 10.1016/j.eplepsyres.2012.10.009
URL: http://www.ncbi.nlm.nih.gov/pubmed/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

Files in This Item:
There are no files associated with this item.


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.