| STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. | |
| | |
MedLine Citation:
|
PMID: 21204804 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We performed STXBP1 mutation analyses in 86 patients with various types of epilepsies, including 10 patients with OS, 43 with West syndrome, 2 with Lennox-Gastaut syndrome, 12 with symptomatic generalized epilepsy, 14 with symptomatic partial epilepsy, and 5 with other undetermined types of epilepsy. In all patients, the etiology was unknown, but ARX and CDKL5 mutations were negative in all cases. All coding exons of STXBP1 were analyzed by direct-sequencing. Two de novo nucleotide alterations of STXBP1 were identified in two patients with Ohtahara and West syndrome, respectively. No de novo or deleterious mutations in STXBP1 were found in the remaining 84 patients with various types of symptomatic epilepsies. This is the first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy. STXBP1 analysis should be considered as an etiology of symptomatic West syndrome without explainable cause. |
| | |
Authors:
|
Motoko Otsuka; Hirokazu Oguni; Jao-Shwann Liang; Hiroko Ikeda; Katsumi Imai; Kyoko Hirasawa; Kaoru Imai; Emiko Tachikawa; Keiko Shimojima; Makiko Osawa; Toshiyuki Yamamoto |
Related Documents
:
|
15030684 - Multiple contact dates and sars incubation periods. 9483604 - The alagille's syndrome and its anaesthetic considerations. 10511044 - Progressive confluent circumpapillary multiple evanescent white-dot syndrome. 18299524 - The history of progressive muscular atrophy: syndrome or disease? 3130854 - Three conditions in neonatal asphyxiating thoracic dysplasia (jeune) and short rib-poly... 9632094 - Antithyroid arthritis syndrome. |
Publication Detail:
|
Type: Journal Article Date: 2010-11-03 |
Journal Detail:
|
Title: Epilepsia Volume: 51 ISSN: 1528-1167 ISO Abbreviation: Epilepsia Publication Date: 2010 Dec |
Date Detail:
|
Created Date: 2011-01-05 Completed Date: 2011-02-14 Revised Date: 2011-03-21 |
Medline Journal Info:
|
Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: United States |
Other Details:
|
Languages: eng Pagination: 2449-52 Citation Subset: IM |
Copyright Information:
|
Wiley Periodicals, Inc. © 2010 International League Against Epilepsy. |
Affiliation:
|
Department of Pediatrics, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Asian Continental Ancestry Group
/
genetics Child Cohort Studies Female Haploinsufficiency / genetics Humans Infant Male Mental Retardation / diagnosis, genetics Munc18 Proteins / genetics* Mutation / genetics* Mutation, Missense / genetics Spasms, Infantile / diagnosis, genetics* |
| Chemical | |
Reg. No./Substance:
|
0/Munc18 Proteins; 0/STXBP1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screenin...
Next Document: A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.