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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-4-17
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pubmed:abstractText |
Although complex idiopathic generalized epilepsies (IGEs) are recognized to have a significant genetic component, as yet there are no known common susceptibility variants. It has recently been suggested that variation in the BRD2 gene confers increased risk of juvenile myoclonic epilepsy (JME), which accounts for around a quarter of all IGE. Here we examine the association between the candidate causal SNP (the promoter variant rs3918149) and JME in five independent cohorts comprising in total 531 JME cases and 1,390 healthy controls.
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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:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0013-9580
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pubmed:author |
pubmed-author:AnandAnuranjanA,
pubmed-author:BerkovicSamuel FSF,
pubmed-author:CavalleriGianpiero LGL,
pubmed-author:DelantyNormanN,
pubmed-author:DepondtChantalC,
pubmed-author:DohertyColin PCP,
pubmed-author:GandhiSoniaS,
pubmed-author:GehrmannAnneA,
pubmed-author:GoldsteinDavid BDB,
pubmed-author:HeilsArminA,
pubmed-author:KapoorAshishA,
pubmed-author:KinironsPeterP,
pubmed-author:LynchJohn MJM,
pubmed-author:MulleyJohnJ,
pubmed-author:SanderThomasT,
pubmed-author:SatishchandraParthasarathyP,
pubmed-author:SchefferIngrid EIE,
pubmed-author:SisodiyaSanjay MSM,
pubmed-author:SoranzoNicoleN,
pubmed-author:WalleyNicole MNM,
pubmed-author:WoodNicholas WNW
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
706-12
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:17437413-Case-Control Studies,
pubmed-meshheading:17437413-Cohort Studies,
pubmed-meshheading:17437413-European Continental Ancestry Group,
pubmed-meshheading:17437413-Genetic Heterogeneity,
pubmed-meshheading:17437413-Genetic Predisposition to Disease,
pubmed-meshheading:17437413-Genetic Variation,
pubmed-meshheading:17437413-Genetics, Population,
pubmed-meshheading:17437413-Genotype,
pubmed-meshheading:17437413-Great Britain,
pubmed-meshheading:17437413-Humans,
pubmed-meshheading:17437413-Myoclonic Epilepsy, Juvenile,
pubmed-meshheading:17437413-Phenotype,
pubmed-meshheading:17437413-Polymorphism, Single Nucleotide,
pubmed-meshheading:17437413-Promoter Regions, Genetic,
pubmed-meshheading:17437413-Protein-Serine-Threonine Kinases,
pubmed-meshheading:17437413-Risk Factors
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pubmed:year |
2007
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pubmed:articleTitle |
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
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pubmed:affiliation |
The Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Multicenter Study
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