Division of Neurology.
The Epilepsy NeuroGenetics Initiative (ENGIN).
Curr Opin Neurol. 2023 Apr 1;36(2):86-94. doi: 10.1097/WCO.0000000000001141. Epub 2023 Feb 10.
In this review, we aim to analyse the progress in understanding the genetic basis of the epilepsies, as well as ongoing efforts to define the increasingly diverse and novel presentations, phenotypes and divergences from the expected that have continually characterized the field.
A genetic workup is now considered to be standard of care for individuals with an unexplained epilepsy, due to mounting evidence that genetic diagnoses significantly influence treatment choices, prognostication, community support, and increasingly, access to clinical trials. As more individuals with epilepsy are tested, novel presentations of known epilepsy genes are being discovered, and more individuals with self-limited epilepsy are able to attain genetic diagnoses. In addition, new genes causative of epilepsy are being uncovered through both traditional and novel methods, including large international data-sharing collaborations and massive sequencing efforts as well as computational methods and analyses driven by the Human Phenotype Ontology (HPO).
New approaches to gene discovery and characterization are advancing rapidly our understanding of the genetic and phenotypic architecture of the epilepsies. This review highlights relevant and groundbreaking studies published recently that have pushed forward the field of epilepsy genetics.
在这篇综述中，我们旨在分析癫痫遗传学基础研究的进展，以及为定义日益多样化和新颖的表现形式、表型以及与预期的差异而做出的持续努力，这些一直是该领域的特征。
由于越来越多的证据表明遗传诊断对治疗选择、预后、社区支持，而且越来越多的是对临床试验的机会有重大影响，因此，对不明原因癫痫患者进行基因检测现在被认为是标准的护理方法。随着越来越多的癫痫患者接受检测，已知癫痫基因的新表现形式被发现，越来越多的自限性癫痫患者能够获得遗传诊断。此外，通过传统和新型方法，包括大型国际数据共享合作和大规模测序工作以及受人类表型本体（HPO）驱动的计算方法和分析，正在发现新的癫痫致病基因。
新的基因发现和特征描述方法正在迅速推进我们对癫痫遗传和表型结构的理解。这篇综述强调了最近发表的相关和开创性研究，这些研究推动了癫痫遗传学领域的发展。
