| Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. | |
| | |
MedLine Citation:
|
PMID: 10402495 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The gene encoding the GABAB receptor (GABABR1) maps close to the HLA-F locus on chromosome 6p21.3 in the same region to which a major susceptibility locus for common subtypes of idiopathic generalized epilepsy (IGE), designated as EJM1, has been localized. Moreover, animal models suggest that the GABAB receptor plays a critical role in the epileptogenesis of absence seizures. Accordingly, the present association study tested the candidate gene hypothesis that genetic variants of the human GABABR1 gene confer susceptibility to common subtypes of IGE. Three DNA sequence variants in exons 1a1, 7, and 11 of the GABABR1 gene were assessed by PCR-based restriction fragment length polymorphisms in 248 unrelated probands of German descent, comprising 72 patients with juvenile myoclonic epilepsy (JME), 46 patients with idiopathic absence epilepsy (IAE), and 130 control subjects without a history of epileptic seizures and lack of generalized spike-wave discharges in their electroencephalogram. The results revealed no evidence for an allelic association of any of the GABABR1 sequence variants with either JME or IAE (P > 0.18). Thus, we failed to demonstrate that any of the three exonic GABABR1 variants themselves, or other so-far unidentified mutations, which are in strong linkage disequilibrium with the investigated variants, are involved in the pathogenesis of common IGE subtypes. |
| | |
Authors:
|
T Sander; C Peters; G Kämmer; J Samochowiec; M Zirra; D Mischke; A Ziegler; K Kaupmann; B Bettler; J T Epplen; O Riess |
Related Documents
:
|
8768845 - Extensive mutation scanning of ret in sporadic medullary thyroid carcinoma and of ret a... 19597845 - Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28. 11953745 - Segregation at three loci explains familial and population risk in hirschsprung disease. 7915165 - Germline ret mutations in men 2a and fmtc and their detection by simple dna diagnostic ... 23583915 - Identification of a novel and recurrent mutation in the serping1 gene in patients with ... 21184155 - Molecular diagnosis of severe combined immunodeficiency-identification of il2rg, jak3, ... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of medical genetics Volume: 88 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1999 Aug |
Date Detail:
|
Created Date: 1999-11-01 Completed Date: 1999-11-01 Revised Date: 2008-11-21 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 305-10 Citation Subset: IM |
Copyright Information:
|
Copyright 1999 Wiley-Liss, Inc. |
Affiliation:
|
Department of Neurology, University Hospital Charité, Campus Virchow Clinic, Humboldt University of Berlin, Berlin, Germany. Sanderth@aol.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Alleles Case-Control Studies Child Child, Preschool Epilepsies, Myoclonic / diagnosis, genetics Epilepsy, Absence / diagnosis, genetics Epilepsy, Generalized / diagnosis, genetics* Exons* Genetic Variation Genotype Humans Polymorphism, Genetic Receptors, GABA-B / genetics* |
| Chemical | |
Reg. No./Substance:
|
0/Receptors, GABA-B |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Novel polymorphism in the promoter region of the tumor necrosis factor alpha gene: No association wi...
Next Document: DNA polymorphism-diet-cofactor-development hypothesis and the gene-teratogen model for schizophrenia...