Suppr超能文献

癫痫认知的遗传学

Genetics of cognition in epilepsy.

作者信息

Busch Robyn M, Najm Imad, Hermann Bruce P, Eng Charis

机构信息

Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Psychiatry & Psychology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.

Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.

出版信息

Epilepsy Behav. 2014 Dec;41:297-306. doi: 10.1016/j.yebeh.2014.05.026. Epub 2014 Jun 25.

Abstract

With the completion of the Human Genome Project and the advent of more advanced sequencing platforms capable of high throughput genotyping at reduced cost, research on the genetics/genomics of cognition has expanded rapidly over the past several decades. This has been facilitated even further by global consortia including HapMap, 1000 Genomes Project, ENCODE, and others, which have made information regarding genetic variation and genomic functional elements readily available to all researchers. Thus, the goal of this Targeted Review is not to provide an exhaustive review of the existing literature on the role of genetic factors in cognition. Rather, we will highlight some of the most consistent findings in this field, review the research in epilepsy to date, and provide a background within which to set forth unique opportunities epilepsy may provide to further elucidate the role of genetics in cognition.

摘要

随着人类基因组计划的完成以及更先进的测序平台的出现,这些平台能够以更低的成本进行高通量基因分型,在过去几十年里,关于认知的遗传学/基因组学研究迅速扩展。包括国际人类基因组单体型图计划(HapMap)、千人基因组计划、DNA元件百科全书计划(ENCODE)等在内的全球合作联盟进一步推动了这一进程,这些联盟使所有研究人员都能轻松获取有关基因变异和基因组功能元件的信息。因此,本专题综述的目的不是对现有关于遗传因素在认知中作用的文献进行详尽回顾。相反,我们将重点介绍该领域一些最一致的研究结果,回顾迄今为止癫痫方面的研究,并提供一个背景,在此背景下阐述癫痫可能为进一步阐明遗传学在认知中的作用提供的独特机会。

相似文献

1
Genetics of cognition in epilepsy.癫痫认知的遗传学
Epilepsy Behav. 2014 Dec;41:297-306. doi: 10.1016/j.yebeh.2014.05.026. Epub 2014 Jun 25.
7
Epilepsy genetics--past, present, and future.癫痫遗传学——过去、现在和未来。
Curr Opin Genet Dev. 2011 Jun;21(3):325-32. doi: 10.1016/j.gde.2011.01.005. Epub 2011 Jan 27.
9
Thinking about cognition and epilepsy.关于认知与癫痫的思考。
Epilepsy Behav. 2014 Dec;41:276. doi: 10.1016/j.yebeh.2014.09.007. Epub 2014 Sep 26.
10
Epilepsy pharmacogenetics.癫痫药物遗传学
Pharmacogenomics. 2009 May;10(5):817-36. doi: 10.2217/pgs.09.34.

引用本文的文献

5
Temporal Lobe Epilepsy and Psychiatric Comorbidity.颞叶癫痫与精神共病
Front Neurol. 2021 Nov 30;12:775781. doi: 10.3389/fneur.2021.775781. eCollection 2021.
10

本文引用的文献

2
A brief history of epigenetics.表观遗传学简史。
Cold Spring Harb Perspect Biol. 2014 Jan 1;6(1):a018200. doi: 10.1101/cshperspect.a018200.
5
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.SCN2A 突变的临床谱扩展至大田原综合征。
Neurology. 2013 Sep 10;81(11):992-8. doi: 10.1212/WNL.0b013e3182a43e57. Epub 2013 Aug 9.
6
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.GRIN2A 突变导致癫痫-失语综合征。
Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验