While the diagnosis of epilepsy relies on the presence of seizures, it encompasses a group of phenotypically and etiologically diverse disorders in which seizures may only be one of a constellation of symptoms. There are genetic, structural, and metabolic causes, but most epilepsy syndromes have some genetic predisposition. The importance of genetics in the diagnosis and management of epilepsy has been increasingly recognized over the past 2 decades. With increased access to testing tools and new recommendations that all patients with unexplained epilepsy get genetic testing, it is becoming part of routine clinical care. Increased testing has resulted in an explosion in the number of genes and genetic changes identified and it is changing our understanding of the mechanisms of epileptogenesis. Advances in both clinical genetics and scientific discovery are expanding our potential to impact patient care as well as creating dilemmas. This brief review will highlight where we are regarding our ability to obtain a genetic diagnosis, how diagnoses impact patient care, and the next likely frontiers in diagnosis and management.

中文翻译：

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癫痫基因检测：改善结果并弥补研究差距

虽然癫痫的诊断依赖于癫痫发作的存在，但它涵盖了一组表型和病因不同的疾病，其中癫痫发作可能只是一系列症状之一。有遗传、结构和代谢原因，但大多数癫痫综合征都有一定的遗传倾向。在过去的二十年里，遗传学在癫痫诊断和治疗中的重要性越来越受到人们的认可。随着检测工具的普及以及所有不明原因癫痫患者接受基因检测的新建议，它正在成为常规临床护理的一部分。检测的增加导致基因数量和已识别的基因变化数量激增，并且正在改变我们对癫痫发生机制的理解。临床遗传学和科学发现的进步正在扩大我们影响患者护理的潜力，同时也带来了困境。这篇简短的回顾将重点介绍我们获得基因诊断的能力、诊断如何影响患者护理以及诊断和管理的下一个可能的前沿。