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

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 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=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.

Aicardi, Jean (author)
Aschauer, Harald (author)
Brouwer, Oebele (author)
Callenbach, Petra (author)
Covanis, Athanasios (author)
Dooley, Joseph M. (author)
Dulac, Olivier (author)
Durner, Martina (author)
Eeg-Olofsson, OrvarUppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten(Swepub:uu)orvareo (author)
Feucht, Martha (author)
Friis, Mogens Laue (author)
Guerrini, Renzo (author)
Kjeldsen, Marianne Juel (author)
Nabbout, Rima (author)
Nashef, Lina (author)
Sander, Thomas (author)
Sirén, Auli (author)
Wirrell, Elaine (author)
McKeigue, Paul (author)
Robinson, Robert (author)
Gardiner, R. Mark (author)
Everett, Kate V. (author)
Uppsala universitetInstitutionen för kvinnors och barns hälsa (creator_code:org_t)

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