Windemuth, C and Schulz, H and Saar, K and Gennaro, E and Bianchi, A and Zara, F and Bulteau, C and Kaminska, A and Ville, D and Cieuta, C and Nabbout-Tarantino, R and Prud'homme, JF and Dulac, O and Bate, L and Gardiner, RM and Lindhout, D and Wienker, TF and Janz, D and Sander, T (2002) No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures. Epilepsy Research , 51 (1-2) 23 - 29.
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A recent genome-wide scan revealed suggestive evidence for two susceptibility loci for idiopathic generalized epilepsy (IGE) in the chromosomal regions 5p15 and 5q14?q22 in families with typical absence seizures. The present replication study tested the validity of the tentative IGE loci on chromosome 5. Our study included 99 multiplex families in which at least one family member had typical absence seizures. Parametric and non-parametric multipoint linkage analyses were carried out between the IGE trait and 23 microsatellite polymorphisms covering the entire region of chromosome 5. Multipoint parametric heterogeneity lod scores <?2 were obtained along chromosome 5 when a proportion of linked families greater than 50% was assumed under recessive inheritance and >60% under dominant inheritance. Furthermore, non-parametric multipoint linkage analyses revealed no hint of linkage throughout the candidate region (P>0.05). Accordingly, we failed to support previous evidence for common IGE loci on chromosome 5. If there is a susceptibility locus for IGE on chromosome 5 then the size of the effect or the proportion of linked families is too small to detect linkage in the investigated family sample.
|Title:||No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures|
|Additional information:||Imported via OAI, 16:54:26 4th May 2005|
|Keywords:||99, ABSENCE, CHROMOSOME, COMMON, DOMINANT, DOMINANT INHERITANCE, Epilepsy, families, family, GENERALIZED EPILEPSY, genetics, Heterogeneity, idiopathic, Ige, IM, INHERITANCE, LA, Linkage, LOCI, LOCUS, Lod Score, MICROSATELLITE, Netherlands, Neurogenetics, NO EVIDENCE, parametric, Polymorphism, polymorphisms, REGION, regions, REPLICATION, SAMPLE, SCAN, SCORES, seizure, Seizures, size, small, support, SUSCEPTIBILITY, VALIDITY|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health|
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