Genetic Testing for Epilepsy: A User Guide

IF 2 4区医学 Q1 Medicine

Current Treatment Options in Neurology Pub Date : 2024-08-02 DOI:10.1007/s11940-024-00806-6

Adelyn Beil, Mallory Wagner, Jill Nulle, Megan Friedli, Louis T. Dang, Tong Pan

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Abstract

Purpose of Review

About 30% of epilepsy cases have an underlying genetic etiology. Despite rapid progress with understanding the genetic underpinnings of epilepsy and with gene-specific treatments for epilepsy, many barriers for clinicians to send genetic testing remain. This review aims to provide clinicians with a practical approach to genetic testing for epilepsy.

Recent Findings

Incorporation of genetic counselors into neurology practices is a useful model for supporting providers to implement proper recommendations. Selecting the appropriate genetic test for epilepsy involves prioritizing patients’ informed consent and evaluating diagnostic yield, cost-effectiveness, and turnaround time following certain algorithms, with exome/genome sequencing as first-tier options, and multigene epilepsy panel as a more accessible alternate for resource-limited situations. Result interpretation should be conducted on a case-by-case basis, and should include interpretation of the results, changes in clinical management, inheritance risks, testing of family members, and discussion of additional testing if needed.

Summary

We provide a comparative assessment of the yield of genetic tests for epilepsy, with possible test outcomes and practical considerations for the clinical decision-making process. Continued research and integration of cutting-edge approaches will expand our understanding of genetics in epilepsy and improve clinical outcomes for individuals with epilepsy.

Abstract Image

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癫痫基因检测：用户指南

综述目的约 30% 的癫痫病例有潜在的遗传病因。尽管在了解癫痫的遗传基础和癫痫的基因特异性治疗方面取得了快速进展，但临床医生在进行基因检测时仍面临许多障碍。本综述旨在为临床医生提供癫痫基因检测的实用方法。最新研究结果将遗传咨询师纳入神经内科实践是支持医疗服务提供者实施适当建议的有用模式。选择合适的癫痫基因检测需要优先考虑患者的知情同意，并按照一定的算法对诊断率、成本效益和周转时间进行评估，外显子组/基因组测序是第一级选择，多基因癫痫面板是资源有限情况下更容易获得的替代方案。结果解释应根据具体情况进行，并应包括对结果的解释、临床管理的改变、遗传风险、家庭成员的检测，以及在必要时讨论额外检测。持续的研究和前沿方法的整合将拓展我们对癫痫遗传学的理解，并改善癫痫患者的临床治疗效果。

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

Current Treatment Options in Neurology CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： This journal aims to review the most important, recently published treatment option advances in the field of neurology. By presenting clear, insightful, balanced contributions by international experts, the journal intends to facilitate worldwide approaches to the treatment of neurologic conditions. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as epilepsy, headache, neurologic ophthalmology and otology, neuromuscular disorders, psychiatric manifestations of neurologic disease, and sleep disorders. Section Editors select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. We also provide commentaries from well-known neurologists, and an international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research.