徐 璇, 赵婧溢, 曹彤瑜, 臧伟进, 周 筠. LQT2与癫痫发病机制相关性研究[J]. 心脏杂志, 2014, 26(6): 740-743.
    引用本文: 徐 璇, 赵婧溢, 曹彤瑜, 臧伟进, 周 筠. LQT2与癫痫发病机制相关性研究[J]. 心脏杂志, 2014, 26(6): 740-743.
    Pathogenic relationship between LQT2 and epilepsy[J]. Chinese Heart Journal, 2014, 26(6): 740-743.
    Citation: Pathogenic relationship between LQT2 and epilepsy[J]. Chinese Heart Journal, 2014, 26(6): 740-743.

    LQT2与癫痫发病机制相关性研究

    Pathogenic relationship between LQT2 and epilepsy

    • 摘要: 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cAMP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。

       

      Abstract: Hereditary channel disorder is closely related to dysfunction of excitable tissue such as the heart, brain and muscle. LQT2 is a hereditary heart disease caused by the mutation of the HERG gene, which encodes the ion channel and LQT2 typically presents with syncope, seizures, or sudden death. Previous research has shown that the concentration changes of the second messenger, cAMP, can regulate the expression of the channel protein. Human idiopathic epilepsy is an abnormal discharge of brain neurons caused by the dysfunction of the ion channel protein encoded by a mutant gene. The common clinical manifestation is clonus, syncope and sudden death. In the light of the current status of international and national research, this review will summarize the pathogenic relationship between LQT2 and epilepsy.

       

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