Potassium channels and epilepsy

IF 2.9 3区 医学 Q2 CLINICAL NEUROLOGY Acta Neurologica Scandinavica Pub Date : 2022-10-12 DOI:10.1111/ane.13695
Kai Gao, Zehong Lin, Sijia Wen, Yuwu Jiang
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引用次数: 8

Abstract

With the development and application of next-generation sequencing technology, the aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive. Additionally, there is a growing body of research into precision therapy based on genetic diagnosis. The numerous genes in the potassium ion channel family constitute the largest family of ion channels: this family is divided into different subtypes. Potassium ion channels play a crucial role in the electrical activity of neurons and are directly involved in the mechanism of epileptic seizures. In China, scientific research on genetic diagnosis and studies of precision therapy for genetic epilepsy are progressing rapidly. Many cases of epilepsy caused by mutation of potassium channel genes have been identified, and several potassium channel gene targets and drug candidates have been discovered. The purpose of this review is to briefly summarize the progress of research on the precise diagnosis and treatment of potassium ion channel-related genetic epilepsy, especially the research conducted in China. Here in, we review several large cohort studies on the genetic diagnosis of epilepsy in China in recent years, summarized the proportion of potassium channel genes. We focus on the progress of precison therapy on some hot epilepsy related potassium channel genes: KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNQ2, KCNQ3, KCNMA1, and KCNT1.

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钾通道与癫痫
随着新一代测序技术的发展和应用,遗传性癫痫的病因诊断正迅速变得更加容易和便宜。此外,基于基因诊断的精准治疗研究也越来越多。钾离子通道家族中的众多基因构成了最大的离子通道家族:该家族分为不同的亚型。钾离子通道在神经元的电活动中起着至关重要的作用,并直接参与癫痫发作的机制。在中国,遗传性癫痫的基因诊断和精准治疗的科学研究进展迅速。钾通道基因突变引起的癫痫已经被发现了许多病例,并发现了几个钾通道基因靶点和候选药物。本文就钾离子通道相关遗传性癫痫精准诊断和治疗的研究进展,特别是国内的研究进展作一综述。本文综述了近年来国内关于癫痫遗传诊断的几项大型队列研究,总结了钾通道基因的比例。重点介绍热癫痫相关钾通道基因KCNA1、KCNA2、KCNB1、KCNC1、KCND2、KCNQ2、KCNQ3、KCNMA1和KCNT1的精准治疗进展。
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
Acta Neurologica Scandinavica
Acta Neurologica Scandinavica 医学-临床神经学
CiteScore
6.70
自引率
2.90%
发文量
161
审稿时长
4-8 weeks
期刊介绍: Acta Neurologica Scandinavica aims to publish manuscripts of a high scientific quality representing original clinical, diagnostic or experimental work in neuroscience. The journal''s scope is to act as an international forum for the dissemination of information advancing the science or practice of this subject area. Papers in English will be welcomed, especially those which bring new knowledge and observations from the application of therapies or techniques in the combating of a broad spectrum of neurological disease and neurodegenerative disorders. Relevant articles on the basic neurosciences will be published where they extend present understanding of such disorders. Priority will be given to review of topical subjects. Papers requiring rapid publication because of their significance and timeliness will be included as ''Clinical commentaries'' not exceeding two printed pages, as will ''Clinical commentaries'' of sufficient general interest. Debate within the speciality is encouraged in the form of ''Letters to the editor''. All submitted manuscripts falling within the overall scope of the journal will be assessed by suitably qualified referees.
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