癫痫遗传。

Q1 Medicine
Sudha Kilaru Kessler
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引用次数: 0

摘要

目的:本文回顾了癫痫遗传学的基本概念和术语,讨论了目前关于何时以及如何进行遗传评估的指导,概述了遗传综合征,并提供了遗传诊断在癫痫患者护理中的作用的说导性例子。最新进展:用于临床的下一代基因测序方法越来越多,为大量癫痫患者提供了病因诊断的机会,这可以影响治疗管理、预后咨询、合并症监测和癫痫护理的其他方面。外显子组和基因组测序可能对不明原因癫痫患者有很高的诊断率。癫痫遗传学的知识体系正变得越来越复杂,这不仅是因为基因的发现,还因为对癫痫基因中特定类型变异的不同病理生理效应的理解越来越细致。要点:基因检测在癫痫患者的评估中起着关键作用。治疗癫痫患者的临床医生应该了解基因检测中的患者选择、测试选择和结果解释。大多数患者推荐的一线检测是外显子组或基因组测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Epilepsy Genetics.

Objective: This article reviews essential concepts and terminology in epilepsy genetics, discusses current guidance on when and how to pursue genetic evaluation, provides an overview of genetic syndromes, and offers illustrative examples of the effect of genetic diagnosis in epilepsy patient care.

Latest developments: The growing availability of next-generation genetic sequencing methods for clinical use provides an opportunity to make etiologic diagnoses in a larger number of epilepsy patients, which can affect therapeutic management, prognostic counseling, surveillance for comorbid conditions, and other aspects of epilepsy care. Exome and genome sequencing may have high diagnostic yields in patients with unexplained epilepsy. The body of knowledge in epilepsy genetics is growing more complex, not only because of gene discovery but also because of an increasingly nuanced understanding of the varying pathophysiologic effects of specific types of variation within epilepsy genes.

Essential points: Genetic testing plays a key role in the evaluation of epilepsy patients. Clinicians caring for patients with epilepsy should understand patient selection, test selection, and result interpretation in genetic testing. The recommended first-line test in most patients is exome or genome sequencing.

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来源期刊
CiteScore
5.80
自引率
0.00%
发文量
175
期刊介绍: Continue your professional development on your own schedule with Continuum: Lifelong Learning in Neurology®, the American Academy of Neurology" self-study continuing medical education publication. Six times a year you"ll learn from neurology"s experts in a convenient format for home or office. Each issue includes diagnostic and treatment outlines, clinical case studies, a topic-relevant ethics case, detailed patient management problem, and a multiple-choice self-assessment examination.
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