电压门控钠通道的变异与机体疾患

Channelopathy of Voltage gated Sodium Channel

通道病理学（ｃｈａｎｎｅｌｏｐａｔｈｙ） 是当今国际学术发展中一门新兴学科。本文将针对有关电压门控钠通道的变异所导致的机体疾患，如高血钾性周期性麻痹、先天性肌强直等骨骼肌疾患、ＬＱＴ３ 、原发性心室纤颤等心脏病及其所涉及的钠通道突变体。

This review will give a brief introduction on “Channelopathy” of voltage gated sodium channel involved with inherited diseases including skeletal muscle diseases (such as HyperPP and PC) and cardiac diseases (such as LQT3 and IVF), voltage gated sodium channel mutations and the electrophysiological characteristics of the sodium channel mutations.