Kullmann Dimitri M, Hanna Michael G
Institute of Neurology, University College London, and the National Hospital for Neurology and Neurosurgery, London, UK.
Lancet Neurol. 2002 Jul;1(3):157-66. doi: 10.1016/s1474-4422(02)00071-6.
Several neurological diseases-including neuromuscular disorders, movement disorders, migraine, and epilepsy-are caused by inherited mutations of ion channels. The list of these "channelopathies" is expanding rapidly, as is the phenotypic range associated with each channel. At present the best understood channelopathies are those that affect muscle-fibre excitability. These channelopathies produce a range of disorders which include: periodic paralysis, myotonias, malignant hyperthermia, and congenital myasthenic syndromes. By contrast, the mechanisms of diseases caused by mutations of ion channels that are expressed in neurons are less well understood. However, as for the muscle channelopathies, a striking feature is that many neuronal channelopathies cause paroxysmal symptoms. This review summarises the clinical features of the known neurological channelopathies, within the context of the functions of the individual ion channels.
包括神经肌肉疾病、运动障碍、偏头痛和癫痫在内的几种神经系统疾病是由离子通道的遗传突变引起的。这些“通道病”的名单正在迅速增加，与每个通道相关的表型范围也是如此。目前，最容易理解的通道病是那些影响肌纤维兴奋性的疾病。这些通道病会引发一系列病症，包括：周期性麻痹、肌强直、恶性高热和先天性肌无力综合征。相比之下，由神经元中表达的离子通道突变引起的疾病机制则了解较少。然而，与肌肉通道病一样，一个显著特征是许多神经元通道病会导致阵发性症状。本综述在单个离子通道功能的背景下，总结了已知神经通道病的临床特征。
