Document Detail


Replication analysis of a putative susceptibility locus (EGI) for idiopathic generalized epilepsy on chromosome 8q24.
MedLine Citation:
PMID:  9670899     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: The present replication study was designed to test the validity of a previously mapped susceptibility locus (EGI) for common subtypes of idiopathic generalized epilepsy (IGE) in chromosomal region 8q24. METHODS: Thirty-eight multiplex families of probands with common IGE syndromes were included in the present study. Parametric and nonparametric multipoint linkage analyses were conducted between the IGE trait (either "idiopathic" generalized seizure or generalized spike-wave EEG discharges) and three microsatellite polymorphisms (D8S256, D8S284, D8S1128) encompassing the putative EGI locus. RESULTS: Parametric and nonparametric multipoint linkage analysis provided no evidence for linkage between the IGE trait and the markers encompassing the putative EGI locus. Moreover, we noted no indication favoring linkage to this chromosomal region in two distinct subsets of families subdivided by the absence (n = 18) or presence (n = 20) of family members with juvenile myoclonic epilepsy (JME). CONCLUSIONS: We failed to replicate evidence of a major locus (EGI) for common familial IGE in chromosome region 8q24. On the contrary, our present parametric linkage results provide evidence against linkage across the region under a broad range of genetic models. If there is a susceptibility locus for IGE in this region, the effect size or the proportion of linked families is too small to detect linkage in these families. Taking into account the problems in replicating initial linkage claims in oligogenic traits, further linkage studies in additional family sets are necessary to evaluate the validity of the previous linkage finding.
Authors:
T Sander; R Kretz; H Schulz; U Sailer; G Bauer; A Scaramelli; J T Epplen; O Riess; D Janz
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Epilepsia     Volume:  39     ISSN:  0013-9580     ISO Abbreviation:  Epilepsia     Publication Date:  1998 Jul 
Date Detail:
Created Date:  1998-07-27     Completed Date:  1998-07-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2983306R     Medline TA:  Epilepsia     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  715-20     Citation Subset:  IM    
Affiliation:
Department of Neurology, Virchow Clinic, Humbolt University, Berlin, Germany.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 8 / genetics*
Electroencephalography / statistics & numerical data
Epilepsies, Myoclonic / genetics
Epilepsy, Generalized / genetics*
Genetic Markers
Genetic Predisposition to Disease
Humans
Linkage (Genetics)
Lod Score
Microsatellite Repeats / genetics
Models, Genetic
Polymorphism, Genetic
Reproducibility of Results
Chemical
Reg. No./Substance:
0/Genetic Markers

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