Khan Bakhtawar, Khalid Iqbal Muhammad, Khan Hamid, Kiyani Mubin Mustafa, Bashir Shahid, Li Shao
Institute of Brain Disorders, Department of Physiology, Dalian Medical University, Liaoning Provence, China.
Department of Biological Science International Islamic University Islamabad, Pakistan.
CNS Neurol Disord Drug Targets. 2025;24(8):582-593. doi: 10.2174/0118715273347470250126185122.
Sodium channels are necessary for electrical activity in modules of the nervous system. When such channels fail to work properly, it may cause different neurological diseases. This review will discuss how particular mutation in these channels leads to different diseases. Positive alterations can lead to such diseases as epilepsy, or any muscle disorder due to over activation of neurons. Conversely, loss-of-function mutations may cause heart diseases and problems regarding motor and mental activity since neurons are not functioning well because of lost machinery. The review would discuss over familiar channelopathies such as genetic epilepsies, the familial hemiplegic migraine, and Para myotonia congenital and relatively new interrelations with the complex ailments including Alzheimer's, Parkinson's and multiple sclerosis. Thus, knowledge of these mechanisms is important in designing specific therapeutic approaches. There is a rationale for altering the sodium channel activity in the treatment of these neurological disorders by drugs or indeed genetic methods. Thus, the review is undertaken to provide clear distinctions and discuss the issues related to sodium channel mutations for the potential development of individualized medicine. The review also gives information on the function and general distribution of voltage-gated sodium channels (VGSCs), how their activity is controlled, and what their structure is like. The purpose therefore is to draw understanding over the apparently multifaceted functions exerted by VGSCs in the nervous system relative to several diseases. This knowledge is imperative in the attempt to produce treatments for these disabling disorders.
钠通道对于神经系统模块中的电活动至关重要。当此类通道无法正常工作时，可能会引发不同的神经疾病。本综述将探讨这些通道中的特定突变如何导致不同的疾病。正向改变可导致癫痫等疾病，或因神经元过度激活而引发的任何肌肉紊乱。相反，功能丧失性突变可能会导致心脏病以及与运动和精神活动相关的问题，因为神经元因机制丧失而功能不佳。该综述将讨论一些常见的通道病，如遗传性癫痫、家族性偏瘫性偏头痛、先天性副肌强直，以及与包括阿尔茨海默病、帕金森病和多发性硬化症在内的复杂疾病的相对较新的关联。因此，了解这些机制对于设计特定的治疗方法很重要。通过药物或基因方法改变钠通道活性来治疗这些神经疾病是有理论依据的。因此，进行本综述是为了明确区分并讨论与钠通道突变相关的问题，以促进个性化医学的潜在发展。该综述还提供了关于电压门控钠通道（VGSCs）的功能和一般分布、其活性如何被控制以及其结构的信息。因此，目的是加深对VGSCs在神经系统中相对于几种疾病所发挥的明显多方面功能的理解。这些知识对于尝试治疗这些致残性疾病至关重要。
