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Epilepsy Res. 2009 Dec;87(2-3):247-55. doi: 10.1016/j.eplepsyres.2009.09.010. Epub 2009 Oct 17.

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

Author information

1
Institute of Child Health, University College London, London, UK. b.chioza@ucl.ac.uk

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 (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.

PMID:
19837565
PMCID:
PMC2791882
DOI:
10.1016/j.eplepsyres.2009.09.010
[Indexed for MEDLINE]
Free PMC Article

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