我们的网站为什么显示成这样？

可能因为您的浏览器不支持样式，您可以更新您的浏览器到最新版本，以获取对此功能的支持，访问下面的网站，获取关于浏览器的信息：

|本期目录/Table of Contents|

LQT2与癫痫发病机制相关性研究

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2014年第6期
页码:
740-743
栏目:
综述
出版日期:
2014-06-25

文章信息/Info

Title:
Pathogenic relationship between LQT2 and epilepsy
作者:
徐 璇; 赵婧溢; 曹彤瑜; 臧伟进; 周 筠
(西安交通大学医学院药理学系，陕西 西安 710061)
Author(s):
XU Xuan;  ZHAO Jing-yi;  CAO Tong-yu;  ZANG Wei-jin;  ZHOU Jun
(Department of Pharmacology, College of Medicine, Xi'an Jiaotong University, Xi’an 710061, Shaanxi, China)
关键词:
长QT综合征; 癫痫; HERG基因; cAMP
Keywords:
long QT syndrome;  epilepsy;  HERG gene;  cAMP
分类号:
R742.1
DOI:
-
文献标识码:
A
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.

参考文献/References

[1]Modi S,Krahn AD.Sudden cardiac arrest without overt heart disease[J].Circulation,2011,123(25):2994-3008.
[2]Zamorano-León JJ,Ya?ez R,Jaime G,et al.KCNH2 gene mutation:a potential Link between epilepsy and long QT-2 syndrome[J].J Neurogenet,2012,26(3-4):382-386.
[3]Anderson JH,Bos JM,Meyer FB,et al.Concealed long QT syndrome and intractable partial epilepsy: a case report[J].Mayo Clin Proc,2012,87(11):1128-1131.
[4]Johnson JN,Hofman N,Haglund CM,et al.Identification of a possible pathogenic Link between congenital long QT syndrome and epilepsy[J]. Neurology,2009,72(3):224-231.
[5]Perrin MJ,Gollob MH.Genetics of cardiac electrical disease[J].Can J Cardiol,2013,29(1):89-99.
[6]范丹丹,周 筠.LQT2相关hERG基因的功能和表达[J].心脏杂志,2012,24(3):402-406,410.
[7]Shimizu W,Moss AJ,Wilde AA,et al.Genotype-phenotype aspects of type 2 long QT syndrome[J].J Am Coll Cardiol,2009,54(22):2052-2062.
[8]Reid CA,Berkovic SF,Petrou S.Mechanisms of human inherited epilepsies[J].Prog Neurobiol, 2009, 87(1):41-57.
[9]Vandenberg JI,Perry MD,Perrin MJ,et al.hERG K(+) channels:structure, function,and clinical significance[J].Physiol Rev,2012,92(3):1393-1478.
[10]Anderson JH,Bos JM,Cascino GD,et al.Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome[J].Heart Rhythm,2014,11(1):53-57.
[11]Russ SA,Larson K,Halfon N.A National profile of childhood epilepsy and seizure disorder[J].Pediatrics,2012,129(2):256-264.
[12]Hunter JV,Moss AJ.Seizures and arrhythmias:Differing phenotypes of a common channelopathy?[J].Neurology,2009,72(3):208-209.
[13]Haugaa KH,Vestervik TT,Andersson S,et al.Abnormal electroencephalograms in patients with long QT syndrome［J］. Heart Rhythm, 2013, 10(12):1877-1883.
[14]冯璇,臧伟进,周筠. 迷走神经在心律失常发生中的研究进展[J].心脏杂志,2012,24(5):646-650.
[15]Chen J,Sroubek J,Krishnan Y,et al.PKA phosphorylation of HERG protein regulates the rate of Channel synthesis[J].Am J Physiol Heart Circ Physiol,2009,296(5):H1244-H1254.

备注/Memo

备注/Memo:
收稿日期：2014-02-24.
基金项目：国家自然科学基金项目资助（81170176）；教育部留学回国人员科研启动基金资助(12回国基金08)； 国家自然科学基金重大国际（地区）合作项目资助（81120108002）;西安交通大学2013年本科生科研训练和实践创新基金资助（2013272） 通讯作者：周筠，副教授，主要从事心血管药理学研究Email:jzhou829@126.com
作者简介：徐璇，本科生Email:xuxuan0522@163.com
更新日期/Last Update: 2014-07-10