@article{536dfeaea0b945829f15cb9a261114e9,
title = "Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14",
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.",
keywords = "Association, Childhood absence epilepsy, Chromosome 3, Linkage, TRAK1",
author = "Chioza, {Barry A.} and Jean Aicardi and Harald Aschauer and Oebele Brouwer and Petra Callenbach and Athanasios Covanis and Dooley, {Joseph M.} and Olivier Dulac and Martina Durner and Orvar Eeg-Olofsson and Martha Feucht and Friis, {Mogens Laue} and Renzo Guerrini and Kjeldsen, {Marianne Juel} and Rima Nabbout and Lina Nashef and Thomas Sander and Auli Sir{\'e}n and Elaine Wirrell and Paul McKeigue and Robert Robinson and Gardiner, {R. Mark} and Everett, {Kate V.}",
note = "Funding Information: This work was supported by the MRC (UK) , Wellcome Trust, Action Medical Research and Epilepsy Research UK . We are very grateful to the families for participating in this study and to all our collaborating clinicians, including Drs Anna-Elina Lehesjoki, Andrew Makoff and Ingrid Olsson. We would like to thank G{\'e}n{\'e}thon for their assistance in collecting the French samples. Austrian financial support came from the Austrian Research Foundation (awarded to Harald Aschauer, MD), grant number P10460-MED. Thomas Sander, MD, was awarded a grant by the German National Genome Research Network (NGFNplus EMINet: 01GS08120). Dutch financial support came from the Netherlands Organisation for Health, Research and Development (ZonMW, 940-33-030) and the Dutch National Epilepsy Fund – {\textquoteleft}The power of the small{\textquoteright} (NEF – {\textquoteleft}De macht van het kleine{\textquoteright}). Danish support (Mogens Friis, MD, and Marianne Kjeldsen, MD) came from the NINDS grant (NS-31564). ",
year = "2009",
month = dec,
doi = "10.1016/j.eplepsyres.2009.09.010",
language = "English (US)",
volume = "87",
pages = "247--255",
journal = "Epilepsy Research",
issn = "0920-1211",
publisher = "Elsevier",
number = "2-3",
}