期刊
NATURE GENETICS
卷 45, 期 9, 页码 1067-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2728
关键词
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资金
- FWO/ESF-ECRP
- EuroEPINOMICS-RES network
- Academy of Finland [141549]
- FWF [I643-B09]
- EuroEPINOMICS-CoGIE network within the Eurocores framework of the European Science Foundation (ESF)
- German Federal Ministry for Education and Research (BMBF) [NGFNplus/EMINet 01GS08123, IonNeurONet 01GM1105A]
- German Research Foundation (DFG) [SFB877]
- Spanish Government [SAF2010-18586]
- European Union Marie Curie International Reintegration Award of the Seventh Framework Programme [PIRG05-GA-2009-248866]
- Waterloo Foundation
- Ali Paris Fund for Landau-Kleffner Syndrome Research and Education
- Charles Sykes Epilepsy Research Trust
- National Institute for Health Research (NIHR) Specialist Biomedical Research Centre for Mental Health of South London
- Maudsley National Health Service (NHS) Foundation Trust
- [32EP30_136042/1]
- [G.A.136.11.N]
- [SF0180035s08]
- [EUI-EURC-2011-4325]
- [HE5415/3-1]
- [Nu50/8-1]
- [Le1030/11-1]
- [Ne416/5-1]
- Academy of Finland (AKA) [141549, 141549] Funding Source: Academy of Finland (AKA)
- Austrian Science Fund (FWF) [I643] Funding Source: Austrian Science Fund (FWF)
- Austrian Science Fund (FWF) [I 643] Funding Source: researchfish
- Medical Research Council [MR/J004049/1] Funding Source: researchfish
- MRC [MR/J004049/1] Funding Source: UKRI
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS)(1,2). The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 x 10(-18), Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS (P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.
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