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Genome wide high de...
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
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Chioza, Barry A. (author)
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Aicardi, Jean (author)
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Aschauer, Harald (author)
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Brouwer, Oebele (author)
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Callenbach, Petra (author)
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Covanis, Athanasios (author)
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Dooley, Joseph M. (author)
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Dulac, Olivier (author)
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Durner, Martina (author)
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- Eeg-Olofsson, Orvar (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten
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Feucht, Martha (author)
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Friis, Mogens Laue (author)
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Guerrini, Renzo (author)
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Kjeldsen, Marianne Juel (author)
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Nabbout, Rima (author)
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Nashef, Lina (author)
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Sander, Thomas (author)
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Sirén, Auli (author)
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Wirrell, Elaine (author)
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McKeigue, Paul (author)
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Robinson, Robert (author)
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Gardiner, R. Mark (author)
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Everett, Kate V. (author)
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(creator_code:org_t)
- Elsevier BV, 2009
- 2009
- English.
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In: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 87:2-3, s. 247-255
- Related links:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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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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To the university's database
- By the author/editor
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Chioza, Barry A.
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Aicardi, Jean
-
Aschauer, Harald
-
Brouwer, Oebele
-
Callenbach, Petr ...
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Covanis, Athanas ...
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show more...
-
Dooley, Joseph M ...
-
Dulac, Olivier
-
Durner, Martina
-
Eeg-Olofsson, Or ...
-
Feucht, Martha
-
Friis, Mogens La ...
-
Guerrini, Renzo
-
Kjeldsen, Marian ...
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Nabbout, Rima
-
Nashef, Lina
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Sander, Thomas
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Sirén, Auli
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Wirrell, Elaine
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McKeigue, Paul
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Robinson, Robert
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Gardiner, R. Mar ...
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Everett, Kate V.
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show less...
- Articles in the publication
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Epilepsy Researc ...
- By the university
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Uppsala University