Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
2009 (English)In: Epilepsy Research, ISSN 0920-1211, E-ISSN 1872-6844, Vol. 87, no 2-3, 247-255 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2009. Vol. 87, no 2-3, 247-255 p.
Association, Childhood absence epilepsy, Chromosome 3, Linkage, TRAK1
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-123161DOI: 10.1016/j.eplepsyres.2009.09.010ISI: 000273019500018PubMedID: 19837565OAI: oai:DiVA.org:uu-123161DiVA: diva2:312531