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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Chioza, BA; Aicardi, J; Aschauer, H; Brouwer, O; Callenbach, P; Covanis, A; Dooley, JM; Dulac, O; Durner, M; Eeg-Olofsson, O; et al. Chioza, BA; Aicardi, J; Aschauer, H; Brouwer, O; Callenbach, P; Covanis, A; Dooley, JM; Dulac, O; Durner, M; Eeg-Olofsson, O; Feucht, M; Friis, ML; Guerrini, R; Kjeldsen, MJ; Nabbout, R; Nashef, L; Sander, T; Sirén, A; Wirrell, E; McKeigue, P; Robinson, R; Gardiner, RM; Everett, KV (2009) Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. EPILEPSY RESEARCH, 87 (2-3). 247 - 255. ISSN 0920-1211 https://doi.org/10.1016/j.eplepsyres.2009.09.010
SGUL Authors: Chioza, Barry Andrew Everett, Kate Victoria

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Abstract

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5–4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Zmean = 3.9, p < 0.0001; HLOD = 3.3, α = 0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.

Item Type: Article
Additional Information: © 2009 Elsevier B.V. Under a Creative Commons license CC BY 3.0
Keywords: Age of Onset, Chromosome Mapping, Chromosomes, Human, Pair 3, Epilepsy, Absence, Female, Genetic Linkage, Genetic Predisposition to Disease, Genome, Human, Humans, Male, Patient Selection, Pedigree, Polymorphism, Single Nucleotide, Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Childhood absence epilepsy, Linkage, Association, Chromosome 3, TRAK1, IDIOPATHIC GENERALIZED EPILEPSY, PEDIGREE DISEQUILIBRIUM TEST, COMPLEX TRAITS, ASSOCIATION, GENE, SEIZURES, GABA(A), RECEPTORS, MUTATION, MOUSE
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Biomedical Education (INMEBE)
Journal or Publication Title: EPILEPSY RESEARCH
ISSN: 0920-1211
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Dates:
DateEvent
1 December 2009Published
Web of Science ID: WOS:000273019500018
Download EPMC Full text (HTML)
URI: http://openaccess.sgul.ac.uk/id/eprint/987
Publisher's version: https://doi.org/10.1016/j.eplepsyres.2009.09.010

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