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The Genetics of Epilepsy.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2020-09-01 , DOI: 10.1146/annurev-genom-120219-074937
Piero Perucca 1, 2, 3 , Melanie Bahlo 4, 5 , Samuel F Berkovic 6
Affiliation  

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have discernible structural, infectious, metabolic, and immune etiologies; however, in most people with epilepsy, no obvious cause is identifiable. Based initially on family studies and later on advances in gene sequencing technologies and computational approaches, as well as the establishment of large collaborative initiatives, we now know that genetics plays a much greater role in epilepsy than was previously appreciated. Here, we review the progress in the field of epilepsy genetics and highlight molecular discoveries in the most important epilepsy groups, including those that have been long considered to have a nongenetic cause. We discuss where the field of epilepsy genetics is moving as it enters a new era in which the genetic architecture of common epilepsies is starting to be unraveled.

中文翻译:


癫痫的遗传学。

癫痫病涵盖了一组异质性脑部疾病,这些疾病影响全球超过5000万人。癫痫病可能具有明显的结构,感染,代谢和免疫病因。但是,在大多数癫痫患者中,没有明显原因可查。最初基于家族研究,后来基于基因测序技术和计算方法的进步以及大型协作计划的建立,我们现在知道,遗传学在癫痫病中的作用比以前所认识的要重要得多。在这里,我们回顾了癫痫遗传学领域的进展,重点介绍了最重要的癫痫组的分子发现,包括长期以来被认为是非遗传原因的那些。

更新日期:2020-09-03
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