Barchi R L
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia 19104-4283, USA.
Curr Opin Neurol. 1998 Oct;11(5):461-8. doi: 10.1097/00019052-199810000-00008.
Voltage-gated ion channels control many aspects of signal transduction in both muscle and nerve. These channels are finely tuned, and either increased or decreased channel activity can adversely affect function. In skeletal muscle, mutations in ion channel genes have been shown to cause both myotonic discharges and episodic paralysis. In cardiac muscle, mutations in related ion channels can produce repolarization defects and fatal arrhythmias. During the past 2 years, a new chapter in the channelopathy story has been opened with the identification of ion channel mutations in the brain that cause disorders ranging from episodic ataxia to epilepsy.
电压门控离子通道控制着肌肉和神经信号转导的许多方面。这些通道经过精细调节，通道活性的增加或减少都会对功能产生不利影响。在骨骼肌中，离子通道基因突变已被证明会导致肌强直放电和发作性麻痹。在心肌中，相关离子通道的突变可导致复极缺陷和致命性心律失常。在过去两年中，随着大脑中导致从发作性共济失调到癫痫等各种疾病的离子通道突变的发现，通道病的故事翻开了新的篇章。
