遗传性离子通道病与可兴奋组织突发性功能紊乱密切相关,主要累及神经、肌肉、心脏、肾脏等组织器官。遗传性长QT综合征(LQT2)是由于编码钾离子通道的HERG基因突变导致的遗传性心脏疾病,临床上以反复发作的晕厥及猝死为特征。研究表明,第二信使c AMP浓度的改变可以调控HERG通道蛋白表达。目前认为,很多人类特发性癫痫是由于突变基因编码的离子通道蛋白所致神经元异常放电的一种离子通道病,临床表现有阵挛、晕厥史和猝死。本文结合国内外研究现状,对LQT2与癫痫发病机制的相关性作一综述。 Hereditary ion channel disease is closely related to sudden dysfunction of excitable tissue, mainly involving the tissues and organs such as nerve, muscle, heart and kidney. Hereditary long QT syndrome (LQT2) is a hereditary heart disease caused by mutations in the HERG gene encoding the potassium channel, and is clinically characterized by recurrent syncope and sudden death. Studies have shown that changes in cAMP concentration in second messengers can regulate HERG channel protein expression. At present, many human idiopathic epilepsy is an ion channel disease caused by abnormal discharge of neurons caused by ion channel protein encoded by the mutant gene. Clinical manifestations include clonus, history of syncope and sudden death. In this paper, the status of research at home and abroad, LQT2 and the pathogenesis of epilepsy are reviewed.