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Follow up of a family with asymptomatic compound long QT syndrome mutations.对一个有无症状复合性长QT综合征突变的家族进行随访。
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Inhibition of late sodium current via PI3K/Akt signaling prevents cellular remodeling in tachypacing-induced HL-1 atrial myocytes.通过 PI3K/Akt 信号抑制晚期钠电流可预防心动过速诱导的 HL-1 心房肌细胞的细胞重构。
Pflugers Arch. 2023 Feb;475(2):217-231. doi: 10.1007/s00424-022-02754-z. Epub 2022 Oct 24.
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Dysfunctional Nav1.5 channels due to SCN5A mutations.功能失调的 Nav1.5 通道由于 SCN5A 突变。
Exp Biol Med (Maywood). 2018 Jun;243(10):852-863. doi: 10.1177/1535370218777972. Epub 2018 May 27.
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Allelic Complexity in Long QT Syndrome: A Family-Case Study.长QT综合征的等位基因复杂性：一项家族病例研究。
Int J Mol Sci. 2017 Jul 27;18(8):1633. doi: 10.3390/ijms18081633.
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QT prolongation is associated with increased mortality in end stage liver disease.QT间期延长与终末期肝病患者死亡率增加相关。
World J Cardiol. 2017 Apr 26;9(4):347-354. doi: 10.4330/wjc.v9.i4.347.

本文引用的文献

1
Statement on authorship and publishing ethics in the International Journal of Cardiology.《国际心脏病学杂志》关于作者身份及出版伦理的声明
Int J Cardiol. 2011 Dec 15;153(3):239-40. doi: 10.1016/j.ijcard.2011.10.119.
2
Efficacy of pharmacological treatment and genetic characterization in early diagnosed patients affected by long QT syndrome with impaired AV conduction.
Int J Cardiol. 2011 May 19;149(1):109-13. doi: 10.1016/j.ijcard.2010.12.099. Epub 2011 Apr 9.
3
Knock-in gain-of-function sodium channel mutation prolongs atrial action potentials and alters atrial vulnerability.点突变致功能获得性钠通道突变可延长心房动作电位并改变心房易损性。
Heart Rhythm. 2010 Dec;7(12):1862-9. doi: 10.1016/j.hrthm.2010.08.016. Epub 2010 Aug 19.
4
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.从 FAMILION 长 QT 综合征基因检测中前 2500 名连续无关患者中获得的突变谱和流行率。
Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.
5
Inherited disorders of voltage-gated sodium channels.电压门控钠通道的遗传性疾病。
J Clin Invest. 2005 Aug;115(8):1990-9. doi: 10.1172/JCI25505.
6
A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.SCN5A基因的一种新型突变，delQKP 1507 - 1509，导致长QT综合征：Q1507残基在钠通道失活中的作用。
J Mol Cell Cardiol. 2003 Dec;35(12):1513-21. doi: 10.1016/j.yjmcc.2003.08.007.
7
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).由心脏钠通道基因（SCN5A）隐性突变引起的先天性病态窦房结综合征。
J Clin Invest. 2003 Oct;112(7):1019-28. doi: 10.1172/JCI18062.
8
Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.长QT综合征、Brugada综合征和传导系统疾病与单一的钠通道突变有关。
J Clin Invest. 2002 Oct;110(8):1201-9. doi: 10.1172/JCI15570.
9
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.布加综合征的基因型-表型关系：心电图特征可区分SCN5A相关患者与非SCN5A相关患者。
J Am Coll Cardiol. 2002 Jul 17;40(2):350-6. doi: 10.1016/s0735-1097(02)01962-9.
10
Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism.导致Brugada综合征和长QT综合征表型的钠离子通道突变：机制的模拟研究
Circulation. 2002 Mar 12;105(10):1208-13. doi: 10.1161/hc1002.105183.

Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome.

作者信息

Detta Nicola, Frisso Giulia, Zullo Alberto, Sarubbi Berardo, Cozzolino Carla, Romeo Emanuele, Wang Dao W, Calabrò Raffaele, Salvatore Francesco, George Alfred L

出版信息

Int J Cardiol. 2013 May 10;165(2):362-5. doi: 10.1016/j.ijcard.2012.08.032. Epub 2012 Sep 12.

DOI:10.1016/j.ijcard.2012.08.032
PMID:22980924
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3538169/
Abstract
摘要