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癫痫患者应在何时进行基因检测?

When Should Genetic Testing Be Performed in Epilepsy Patients?

作者信息

Poduri Annapurna

机构信息

Attending Physician/Director, Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA.

出版信息

Epilepsy Curr. 2017 Jan-Feb;17(1):16-22. doi: 10.5698/1535-7511-17.1.16.

Abstract

This review is a summary of a talk presented at the 2015 American Epilepsy Society Annual Meeting. Its purposes are 1) to review developments in epilepsy genetics, 2) to discuss which groups of patients with epilepsy might benefit from genetic testing, and 3) to present a rational approach to genetic testing in epilepsy in the rapidly evolving era of genomic medicine.

摘要

本综述是在2015年美国癫痫协会年会上发表的一次演讲的总结。其目的在于:1)回顾癫痫遗传学的发展;2)讨论哪些癫痫患者群体可能从基因检测中获益;3)在基因组医学快速发展的时代,提出一种针对癫痫进行基因检测的合理方法。

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