癫痫的遗传学。

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-27 DOI:10.1146/annurev-genom-120219-074937
Piero Perucca, Melanie Bahlo, Samuel F Berkovic
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引用次数: 73

摘要

癫痫包括一组异质性脑部疾病,影响全世界5000多万人。癫痫可能有明显的结构、感染、代谢和免疫病因;然而,在大多数癫痫患者中,没有明显的病因可以确定。最初基于家庭研究,后来基于基因测序技术和计算方法的进展,以及建立大型合作计划,我们现在知道,遗传学在癫痫中发挥的作用比以前认识到的要大得多。在这里,我们回顾了癫痫遗传学领域的进展,并重点介绍了在最重要的癫痫群体中发现的分子,包括那些长期以来被认为具有非遗传原因的癫痫群体。我们将讨论癫痫遗传学领域的进展,因为它进入了一个新时代,在这个新时代中,普通癫痫的遗传结构开始被解开。
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The Genetics of Epilepsy.

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.

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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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