Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

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作者： Mahmoud,Koko ^[1] ; Joshua E,Motelow ^[2] ; Kate E,Stanley ^[2] ; Dheeraj R,Bobbili ^[3] ; Ryan S,Dhindsa ^[2] ; Patrick,May ^[3] ; Canadian Epilepsy Network ; Epi4K Consortium ; Epilepsy Phenome/Genome Project ; EpiPGX Consortium ; EuroEPINOMICS-CoGIE Consortium

作者单位： Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. ^[1] Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA. ^[2] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg. ^[3]

关键词 GABRG2 GABAA receptors GGE familial epilepsy sporadic epilepsy

主题词病例对照研究(Case-Control Studies);癫痫, 全身性(Epilepsy, Generalized);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);受体, GABA-A(Receptors, GABA-A);γ氨基丁酸(gamma-Aminobutyric Acid)

DOI 10.1111/epi.17166

PMID 35032048

发布时间 2024-09-06

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