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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
- Chioza, Barry A. (author)
- Aicardi, Jean (author)
- Aschauer, Harald (author)
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- Brouwer, Oebele (author)
- Callenbach, Petra (author)
- Covanis, Athanasios (author)
- Dooley, Joseph M. (author)
- Dulac, Olivier (author)
- Durner, Martina (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)
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- (creator_code:org_t)
- Elsevier BV, 2009
- 2009
- English.
- In: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 87:2-3, s. 247-255
- Journal article (peer-reviewed)
Abstract
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- 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.
Keyword
- Association
- Childhood absence epilepsy
- Chromosome 3
- Linkage
- TRAK1
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Chioza, Barry A.
- Aicardi, Jean
- Aschauer, Harald
- Brouwer, Oebele
- Callenbach, Petr ...
- Covanis, Athanas ...
- show more...
- Dooley, Joseph M ...
- Dulac, Olivier
- Durner, Martina
- Eeg-Olofsson, Or ...
- Feucht, Martha
- Friis, Mogens La ...
- Guerrini, Renzo
- Kjeldsen, Marian ...
- Nabbout, Rima
- Nashef, Lina
- Sander, Thomas
- Sirén, Auli
- Wirrell, Elaine
- McKeigue, Paul
- Robinson, Robert
- Gardiner, R. Mar ...
- Everett, Kate V.
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- Epilepsy Researc ...
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- Uppsala University
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