Kullmann D M, Rea R, Spauschus A, Jouvenceau A
University Department of Clinical Neurology, Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square London WC1N 3BG, UK.
Neuroscientist. 2001 Feb;7(1):80-8. doi: 10.1177/107385840100700111.
The past few years have seen the elucidation of several neurological diseases caused by inherited mutations of ion channels. In contrast to many other types of genetic disorders, the "channelopathies" can be studied with high precision by applying electrophysiological methods. This review evaluates the success of this approach in explaining the mechanisms of two forms of episodic ataxia that are known to be caused by mutations of ion channels: episodic ataxia type 1 (EA1, caused by K+ channel mutations) and episodic ataxia type 2 (EA2, caused by Ca2+ channel mutations). Although both of these disorders are rare, they raise many important questions about the roles of identified channels in brain function. Indeed, a resolution of the mechanisms by which both diseases occur will represent a major milestone in understanding diseases of the CNS, in addition to opening the way to novel possible treatments.
在过去几年里，人们已经阐明了几种由离子通道遗传突变引起的神经疾病。与许多其他类型的遗传疾病不同，“通道病”可以通过应用电生理方法进行高精度研究。本综述评估了这种方法在解释两种已知由离子通道突变引起的发作性共济失调机制方面的成效：发作性共济失调1型（EA1，由钾通道突变引起）和发作性共济失调2型（EA2，由钙通道突变引起）。尽管这两种疾病都很罕见，但它们引发了许多关于已确定通道在脑功能中作用的重要问题。事实上，解决这两种疾病发生的机制不仅将为理解中枢神经系统疾病带来一个重要里程碑，还将为新的可能治疗方法开辟道路。
