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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2-3
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pubmed:dateCreated |
2009-11-25
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:commentsCorrections |
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http://linkedlifedata.com/resource/pubmed/commentcorrection/19837565-9758624
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1872-6844
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pubmed:author |
pubmed-author:AicardiJeanJ,
pubmed-author:AschauerHaraldH,
pubmed-author:BrouwerOebeleO,
pubmed-author:CallenbachPetraP,
pubmed-author:ChiozaBarry ABA,
pubmed-author:CovanisAthanasiosA,
pubmed-author:DooleyJoseph MJM,
pubmed-author:DulacOlivierO,
pubmed-author:DurnerMartinaM,
pubmed-author:Eeg-OlofssonOrvarO,
pubmed-author:EverettKate VKV,
pubmed-author:FeuchtMarthaM,
pubmed-author:FriisMogens LaueML,
pubmed-author:GardinerR MarkRM,
pubmed-author:GuerriniRenzoR,
pubmed-author:KjeldsenMarianne JuelMJ,
pubmed-author:McKeiguePaulP,
pubmed-author:NabboutRimaR,
pubmed-author:NashefLinaL,
pubmed-author:RobinsonRobertR,
pubmed-author:SanderThomasT,
pubmed-author:SirénAuliA,
pubmed-author:WirrellElaineE
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pubmed:issnType |
Electronic
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pubmed:volume |
87
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
247-55
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
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