Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Handb Clin Neurol. 2024;203:1-23. doi: 10.1016/B978-0-323-90820-7.00009-4.
Ion channels are membrane proteins that allow the passage of ions across the membrane. They characteristically contain a pore where the selectivity of certain ion species is determined and gates that open and close the pore are found. The pore is often connected to additional domains or subunits that regulate its function. Channels are grouped into families based on their selectivity for specific ions and the stimuli that control channel opening and closing, such as voltage or ligands. Ion channels are fundamental to the electrical properties of excitable tissues. Dysfunction of channels can lead to abnormal electrical signaling of neurons and muscle cells, accompanied by clinical manifestations, known as channelopathies. Many naturally occurring toxins target ion channels and affect excitable cells where the channels are expressed. Furthermore, ion channels, as membrane proteins and key regulators of a number of physiologic functions, are an important target for drugs in clinical use. In this chapter, we give a general overview of the classification, genetics and structure-function features of the main ion channel families, and address some pharmacologic aspects relevant to neurologic channelopathies.
离子通道是一种膜蛋白，允许离子穿过细胞膜。它们通常具有一个孔，其中决定了某些离子种类的选择性，并且可以找到打开和关闭孔的门。该孔通常与调节其功能的其他结构域或亚基相连。根据其对特定离子的选择性以及控制通道打开和关闭的刺激（如电压或配体），离子通道被分为不同的家族。离子通道是可兴奋组织电性质的基础。通道功能障碍可导致神经元和肌肉细胞异常电信号传递，伴随临床表现，称为通道病。许多天然毒素靶向离子通道并影响表达通道的可兴奋细胞。此外，离子通道作为膜蛋白和许多生理功能的关键调节剂，是临床应用药物的重要靶标。在本章中，我们将对主要离子通道家族的分类、遗传学和结构-功能特征进行概述，并讨论与神经通道病相关的一些药理学方面。
