Suppr超能文献

钙通道在癫痫中的作用。

The Role of Calcium Channels in Epilepsy.

作者信息

Rajakulendran Sanjeev, Hanna Michael G

机构信息

UCL-Institute of Neurology, MRC Centre for Neuromuscular Diseases, Queen Square, London WC1N 3BG, United Kingdom.

出版信息

Cold Spring Harb Perspect Med. 2016 Jan 4;6(1):a022723. doi: 10.1101/cshperspect.a022723.

Abstract

A central theme in the quest to unravel the genetic basis of epilepsy has been the effort to elucidate the roles played by inherited defects in ion channels. The ubiquitous expression of voltage-gated calcium channels (VGCCs) throughout the central nervous system (CNS), along with their involvement in fundamental processes, such as neuronal excitability and synaptic transmission, has made them attractive candidates. Recent insights provided by the identification of mutations in the P/Q-type calcium channel in humans and rodents with epilepsy and the finding of thalamic T-type calcium channel dysfunction in the absence of seizures have raised expectations of a causal role of calcium channels in the polygenic inheritance of idiopathic epilepsy. In this review, we consider how genetic variation in neuronal VGCCs may influence the development of epilepsy.

摘要

在探索癫痫遗传基础的过程中,一个核心主题是努力阐明离子通道遗传缺陷所起的作用。电压门控钙通道(VGCCs)在整个中枢神经系统(CNS)中普遍表达,并且参与诸如神经元兴奋性和突触传递等基本过程,这使其成为有吸引力的研究对象。近期,在患有癫痫的人类和啮齿动物中发现P/Q型钙通道突变,以及在无癫痫发作情况下发现丘脑T型钙通道功能障碍,这些新见解引发了人们对钙通道在特发性癫痫多基因遗传中因果作用的期待。在本综述中,我们探讨神经元VGCCs的遗传变异如何可能影响癫痫的发展。

相似文献

1
The Role of Calcium Channels in Epilepsy.钙通道在癫痫中的作用。
Cold Spring Harb Perspect Med. 2016 Jan 4;6(1):a022723. doi: 10.1101/cshperspect.a022723.
2
The role of calcium channel mutations in human epilepsy.钙通道突变在人类癫痫中的作用。
Prog Brain Res. 2014;213:87-96. doi: 10.1016/B978-0-444-63326-2.00004-1.
3
Voltage-gated calcium channels in genetic epilepsies.遗传性癫痫中的电压门控钙通道。
J Neurochem. 2024 Dec;168(12):3853-3871. doi: 10.1111/jnc.15983. Epub 2023 Oct 11.
5
Channelopathies as a genetic cause of epilepsy.通道病作为癫痫的一种遗传病因。
Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7.
7
Role of voltage-gated calcium channels in epilepsy.电压门控钙通道在癫痫中的作用。
Pflugers Arch. 2010 Jul;460(2):395-403. doi: 10.1007/s00424-009-0772-x. Epub 2009 Dec 20.
8
[Ion channels and epilepsy].[离子通道与癫痫]
Rev Neurol. 2000 Jun;30 Suppl 1:S25-41.

引用本文的文献

本文引用的文献

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验