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A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
MedLine Citation:
PMID:  23148524     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Dravet syndrome is a severe form of epileptic encephalopathy characterized by early onset epileptic seizures followed by ataxia and cognitive decline. Approximately 80% of patients with Dravet syndrome have been associated with heterozygous mutations in SCN1A gene encoding voltage-gated sodium channel (VGSC) α(I) subunit, whereas a homozygous mutation (p.Arg125Cys) of SCN1B gene encoding VGSC β(I) subunit was recently described in a patient with Dravet syndrome. To further examine the involvement of homozygous SCN1B mutations in the etiology of Dravet syndrome, we performed mutational analyses on SCN1B in 286 patients with epileptic disorders, including 67 patients with Dravet syndrome who have been negative for SCN1A and SCN2A mutations. In the cohort, we found one additional homozygous mutation (p.Ile106Phe) in a patient with Dravet syndrome. The identified homozygous SCN1B mutations indicate that SCN1B is an etiologic candidate underlying Dravet syndrome.
Authors:
Ikuo Ogiwara; Tojo Nakayama; Tetsushi Yamagata; Hideyuki Ohtani; Emi Mazaki; Shigeru Tsuchiya; Yushi Inoue; Kazuhiro Yamakawa
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-13
Journal Detail:
Title:  Epilepsia     Volume:  -     ISSN:  1528-1167     ISO Abbreviation:  Epilepsia     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2983306R     Medline TA:  Epilepsia     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 International League Against Epilepsy.
Affiliation:
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako, Saitama, Japan Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
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