No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures

• Published in: Epilepsy research Vol. 51; no. 1; pp. 23 - 29
• Main Authors: Windemuth, C, Schulz, H, Saar, K, Gennaro, E, Bianchi, A, Zara, F, Bulteau, C, Kaminska, A, Ville, D, Cieuta, C, Nabbout-Tarantino, R, Prud'homme, J.-F, Dulac, O, Bate, L, Gardiner, R.M, Lindhout, D, Wienker, T.F, Janz, D, Sander, T
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 01.09.2002; Elsevier
• Subjects: Absence epilepsy; Biological and medical sciences; Chromosome 5; Chromosome Mapping; Chromosomes, Human, Pair 5; Epilepsy, Generalized - genetics; Family Health; Genetic Linkage; Genetic Predisposition to Disease; Genetics; Genotype; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Linkage; Lod Score; Medical sciences; Nervous system (semeiology, syndromes); Neurology; Pedigree; Polymorphism, Genetic; Replication; Genetics; Replication; Chromosome 5; Linkage; Absence epilepsy; Nervous system diseases; Family study; Pathogenesis; Epilepsy; Idiopathic; Petit mal; Chromosome B5; Genetic determinism; Cerebral disorder; Central nervous system disease; Locus; Polymorphism
• ISSN: 0920-1211; 1872-6844
• DOI: 10.1016/S0920-1211(02)00097-9

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.