Busch Robyn M, Najm Imad, Hermann Bruce P, Eng Charis
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.
Epilepsy Behav. 2014 Dec;41:297-306. doi: 10.1016/j.yebeh.2014.05.026. Epub 2014 Jun 25.
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.
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。
