Document Detail


Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
MedLine Citation:
PMID:  23195492     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Mutations of the gene encoding the α1 subunit of neuronal sodium channel, SCN1A, are reported to cause Dravet syndrome (DS). The prevalence of mutations reported in such studies (mainly in clinically confirmed DS) seems high enough to make genetic diagnosis feasible. In fact, commercially operating genetic diagnostic laboratories offering genetic analyses of SCN1A are available. Still, the exact prevalence of mutations of SCN1A remains elusive. Fukuoka University has been serving as a genetic diagnostic laboratory for DS for the last 10 years. In this study, we determined the prevalence of SCN1A mutations (SCN1A, SCN2A, SCN1B and SCN2B) in 448 patients with suspected DS and intractable childhood epilepsy. A total of 192 SCN1A mutations were identified in 188 of 448 patients (42.0%). The frequencies of SCN1A mutations in suspected severe myoclonic epilepsy of infancy (SMEI), its borderline phenotype (SMEB) and intractable epilepsy were 56.2%, 41.9% and 28.9% respectively. In addition, four SCN2A mutations were identified in 4 of 325 patients. No mutations of SCN1B and SCN2B were identified. These results are potentially helpful for the diagnosis of DS at early stage.
Authors:
Ji-Wen Wang; Xiu-Yu Shi; Hirokazu Kurahashi; Su-Kyeong Hwang; Atsushi Ishii; Norimichi Higurashi; Sunao Kaneko; Shinichi Hirose;
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-20
Journal Detail:
Title:  Epilepsy research     Volume:  102     ISSN:  1872-6844     ISO Abbreviation:  Epilepsy Res.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8703089     Medline TA:  Epilepsy Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  195-200     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier B.V. All rights reserved.
Affiliation:
Department of Pediatrics, School of Medicine, Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Japan; Department of Pediatrics, Qilu Hospital, Shandong University, Jinan, China.
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