Møller Rikke S, Dahl Hans A, Helbig Ingo
a Danish Epilepsy Centre , Dianalund , Denmark.
b Institute for Regional Health research , University of Southern Denmark , Odense , Denmark.
Expert Rev Mol Diagn. 2015;15(12):1531-8. doi: 10.1586/14737159.2015.1113132. Epub 2015 Nov 13.
During the last decade, next generation sequencing technologies such as targeted gene panels, whole exome sequencing and whole genome sequencing have led to an explosion of gene identifications in monogenic epilepsies including both familial epilepsies and severe epilepsies, often referred to as epileptic encephalopathies. The increased knowledge about causative genetic variants has had a major impact on diagnosis of genetic epilepsies and has already been translated into treatment recommendations for a few genes. This article provides an overview of how next generation sequencing has advanced our understanding of epilepsy genetics and discusses some of the recently discovered genes in monogenic epilepsies.
在过去十年中,靶向基因panel、全外显子组测序和全基因组测序等新一代测序技术,使得单基因癫痫(包括家族性癫痫和通常被称为癫痫性脑病的严重癫痫)中的基因识别数量呈爆发式增长。对致病基因变异的了解不断增加,对遗传性癫痫的诊断产生了重大影响,并且已经转化为针对少数基因的治疗建议。本文概述了新一代测序如何推动我们对癫痫遗传学的理解,并讨论了单基因癫痫中一些最近发现的基因。