Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.

IF 4.6 2区医学 Q1 NEUROSCIENCES Molecular Neurobiology Pub Date : 2024-11-01 Epub Date: 2024-03-22 DOI:10.1007/s12035-024-04120-9

Changning Xie, Miriam Kessi, Fei Yin, Jing Peng

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Abstract

Potassium voltage-gated channel subfamily a member 2 (Kv1.2, encoded by KCNA2) is highly expressed in the central and peripheral nervous systems. Based on the patch clamp studies, gain-of function (GOF), loss-of-function (LOF), and a mixed type (GOF/LOF) variants can cause different conditions/disorders. KCNA2-related neurological diseases include epilepsy, intellectual disability (ID), attention deficit/hyperactive disorder (ADHD), autism spectrum disorder (ASD), pain as well as autoimmune and movement disorders. Currently, the molecular mechanisms for the reported variants in causing diverse disorders are unknown. Consequently, this review brings up to date the related information regarding the structure and function of Kv1.2 channel, expression patterns, neuronal localizations, and tetramerization as well as important cell and animal models. In addition, it provides updates on human genetic variants, genotype-phenotype correlations especially highlighting the deep insight into clinical prognosis of KCNA2-related developmental and epileptic encephalopathy, mechanisms, and the potential treatment targets for all KCNA2-related neurological disorders.

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KCNA2 在神经系统疾病中的作用：从生理学到病理学。

电压门控钾通道亚家族 a 成员 2（Kv1.2，由 KCNA2 编码）在中枢和外周神经系统中高度表达。根据膜片钳研究，功能增益（GOF）、功能缺失（LOF）和混合型（GOF/LOF）变异可导致不同的病症/障碍。与 KCNA2 相关的神经系统疾病包括癫痫、智力障碍（ID）、注意力缺陷/多动障碍（ADHD）、自闭症谱系障碍（ASD）、疼痛以及自身免疫和运动障碍。目前，所报道的变异导致各种疾病的分子机制尚不清楚。因此，本综述提供了有关 Kv1.2 通道的结构和功能、表达模式、神经元定位、四聚体化以及重要细胞和动物模型的最新信息。此外，它还提供了有关人类基因变异、基因型与表型相关性的最新信息，特别强调了对 KCNA2 相关发育性脑病和癫痫性脑病的临床预后、机制以及所有 KCNA2 相关神经系统疾病的潜在治疗靶点的深刻见解。

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

Molecular Neurobiology 医学-神经科学

CiteScore

9.00

自引率

2.00%

发文量

480

审稿时长

1 months

期刊介绍： Molecular Neurobiology is an exciting journal for neuroscientists needing to stay in close touch with progress at the forefront of molecular brain research today. It is an especially important periodical for graduate students and "postdocs," specifically designed to synthesize and critically assess research trends for all neuroscientists hoping to stay active at the cutting edge of this dramatically developing area. This journal has proven to be crucial in departmental libraries, serving as essential reading for every committed neuroscientist who is striving to keep abreast of all rapid developments in a forefront field. Most recent significant advances in experimental and clinical neuroscience have been occurring at the molecular level. Until now, there has been no journal devoted to looking closely at this fragmented literature in a critical, coherent fashion. Each submission is thoroughly analyzed by scientists and clinicians internationally renowned for their special competence in the areas treated.