title: A Locus Identified on Chromosome18P11.31 is Associated with Hippocampal Abnormalities in a Family with Mesial Temporal Lobe Epilepsy.
abstract: We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb) in a family with mesial temporal lobe epilepsy (MTLE). Genome-wide scan was performed in one large kindred with MTLE using a total of 332 microsatellite markers at ∼12 cM intervals. An additional 13 markers were genotyped in the candidate region. Phenotypic classes were defined according to the presence of hippocampal atrophy and/or hyperintense hippocampal T2 signal detected on magnetic resonance imaging. We identified a significant positive LOD score on chromosome 18p11.31 with a Z(max) of 3.12 at D18S452. Multipoint LOD scores and haplotype analyses localized the candidate locus within a 6-cM interval flanked by D18S976 and D18S967. We present here evidence that HAb, which were previously related mainly to environmental risk factors, may be influenced by genetic predisposition. This finding may have major impact in the study of the mechanisms underlying abnormalities in mesial temporal lobe structures and their relationship with MTLE.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas Campinas, São Paulo, Brazil.
authors.forename: Cláudia V
authors.initials: CV
authors.lastname: Maurer-Morelli
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Secolin
authors.forename: Márcia E
authors.initials: ME
authors.lastname: Morita
authors.forename: Romênia R
authors.initials: RR
authors.lastname: Domingues
authors.forename: Rafael B
authors.initials: RB
authors.lastname: Marchesini
authors.forename: Neide F
authors.initials: NF
authors.lastname: Santos
authors.forename: Eliane
authors.initials: E
authors.lastname: Kobayashi
authors.forename: Fernando
authors.initials: F
authors.lastname: Cendes
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes