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

Barry A. Chioza, Jean Aicardi, Harald Aschauer, Oebele Brouwer, Petra Callenbach, Athanasios Covanis, Joseph M. Dooley, Olivier Dulac, Martina Durner, Orvar Eeg-Olofsson, Martha Feucht, Mogens Laue Friis, Renzo Guerrini, Marianne Juel Kjeldsen, Rima Nabbout, Lina Nashef, Thomas Sander, Auli Siren, Elaine Wirrell, Paul McKeigueRobert Robinson, R. Mark Gardiner, Kate V. Everett

Research output: Contribution to journalArticlepeer-review


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 wet[ 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 (Z(mean) = 3.9, p < 0.0001; HLOD = 3.3, alpha = 0.7). The (inked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1. (C) 2009 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)247-255
Number of pages9
JournalEpilepsy research
Issue number2-3
Publication statusPublished - Dec 2009

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