Document Detail


Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.
MedLine Citation:
PMID:  16839746     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically heterogeneous. Mutations in the alpha-1 subunit of the GABAA receptor (GABRA1) and EFHC1 genes have been reported in a few families with autosomal dominant (AD) JME. We have investigated the contribution of these two genes to familial JME in our cohort of 54 JME Caucasian families. Syndromic classification of JME was based on previously published criteria. We considered kindreds with at least one affected first-degree relative and the evidence of a vertical transmission as definite AD JME, and families with at least one affected second-degree relative as probable AD JME. We included 33 families meeting criteria for definitive AD JME and 21 that were classified as probable AD JME. None of these families were considered informative enough to analyze candidate loci for JME using linkage analysis. We have systematically screened coding exons of these two genes using temperature gradient capillary electrophoresis. Every heteroduplex with an abnormal mobility was sequenced. No disease-causing mutations in the GABRA1 gene were identified. Analysis of EFHC1 gene found one putative disease-causing mutation R221H that was previously reported as a tandem mutation. Several synonymous and non-synonymous coding polymorphisms were identified but the allelic frequency did not differ between controls and affected individuals. Our data suggests that the majority of familial AD JME is not caused by mutations in the GABRA1 and EFHC1 genes.
Authors:
Shaochun Ma; Marcia A Blair; Bassel Abou-Khalil; Andre H Lagrange; Christina A Gurnett; Peter Hedera
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2006-07-12
Journal Detail:
Title:  Epilepsy research     Volume:  71     ISSN:  0920-1211     ISO Abbreviation:  Epilepsy Res.     Publication Date:  2006 Oct 
Date Detail:
Created Date:  2006-09-26     Completed Date:  2006-11-28     Revised Date:  2010-01-11    
Medline Journal Info:
Nlm Unique ID:  8703089     Medline TA:  Epilepsy Res     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  129-34     Citation Subset:  IM    
Affiliation:
Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232-8552, USA.
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MeSH Terms
Descriptor/Qualifier:
Calcium-Binding Proteins / genetics*
DNA Mutational Analysis
Genotype
Humans
Mutation*
Myoclonic Epilepsy, Juvenile / genetics
Pedigree
Polymorphism, Genetic*
Protein Subunits / genetics
Receptors, GABA-A / genetics*
Grant Support
ID/Acronym/Agency:
K08NS42743/NS/NINDS NIH HHS; K12NS01690/NS/NINDS NIH HHS; RR00095/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Calcium-Binding Proteins; 0/EFHC1 protein, human; 0/Protein Subunits; 0/Receptors, GABA-A; 0/alpha1 subunit, GABA-A receptor

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