Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research

IF 5.8 2区医学 Q1 CLINICAL NEUROLOGY

Epilepsy Currents Pub Date : 2024-03-25 DOI:10.1177/15357597241232881

Christa W. Habela, Krista Schatz, Sarah A. Kelley

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Abstract

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.

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癫痫基因检测：提高研究成果，填补研究空白

虽然癫痫的诊断依赖于癫痫发作的出现，但它包括一组表型和病因各异的疾病，其中癫痫发作可能只是一系列症状中的一种。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。过去二十年来，遗传学在癫痫诊断和治疗中的重要性日益得到认可。随着检测工具的普及和所有不明原因癫痫患者接受基因检测的新建议，基因检测正成为常规临床护理的一部分。检测的增加导致已确定的基因和基因变化的数量激增，也改变了我们对癫痫发生机制的认识。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。这篇简短的综述将重点介绍我们目前获得基因诊断的能力、诊断对患者护理的影响以及诊断和管理的下一个可能的前沿领域。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Epilepsy Currents CLINICAL NEUROLOGY-

CiteScore

2.40

自引率

5.60%

发文量

审稿时长

>12 weeks

期刊介绍： Epilepsy Currents is an open access, bi-monthly current-awareness journal providing reviews, commentaries and abstracts from the world’s literature on the research and treatment of epilepsy. Epilepsy Currents surveys and comments on all important research and developments in a format that is easy to read and reference. Each issue is divided into two main sections: Basic Science and Clinical Science. An outstanding Editorial Board reviews the literature and assigns topics and articles to world experts for comment. In addition, the Editors commission authoritative review articles on important subjects.