Epilepsy Gene Discovery Needs Another Big Leap Forward.
作者信息
Frankel Wayne N
机构信息
Department of Genetics and Development, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
出版信息
Epilepsy Curr. 2025 Apr 1:15357597251325685. doi: 10.1177/15357597251325685.
Abstract
摘要
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Epilepsy Curr. 2025 Apr 1:15357597251325685. doi: 10.1177/15357597251325685.
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.对 20979 名癫痫患者进行外显子组测序，揭示了不同疾病亚型之间共享和独特的超罕见遗传风险。
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.GWAS 荟萃分析超过 29000 名癫痫患者，确定了 26 个风险基因座和亚型特异性遗传结构。
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