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Incessant atrial and ventricular tachycardias associated with an mutation.

作者信息

Papagiannis John, Yang Tao, Glazer Andrew M, Tisma-Dupanovic Svjetlana, Avramidis Dimosthenis, Kannankeril Prince J, Viskin Sami, Walsh Edward P, Roden Dan M

机构信息

Department of Pediatric and Adult Congenital Cardiology, Onassis Cardiac Surgery Center, Kallithea, Greece.

Departments of Medicine and Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.

出版信息

HeartRhythm Case Rep. 2021 Sep 4;7(12):806-811. doi: 10.1016/j.hrcr.2021.08.013. eCollection 2021 Dec.

DOI:10.1016/j.hrcr.2021.08.013
PMID:34987964
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8695285/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d5c/8695285/a9380ada5f18/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d5c/8695285/c0c0ec19f36a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d5c/8695285/d96f731a7baa/gr2ab.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d5c/8695285/a9380ada5f18/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d5c/8695285/c0c0ec19f36a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d5c/8695285/d96f731a7baa/gr2ab.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d5c/8695285/a9380ada5f18/gr3.jpg

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本文引用的文献

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High-Throughput Reclassification of SCN5A Variants.高通量 SCN5A 变异体再分类。
Am J Hum Genet. 2020 Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12.
2
The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
3
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions.一个新的 SCN5A 功能获得性突变导致多灶性异位浦肯野相关的过早收缩。
Hum Mutat. 2020 Apr;41(4):850-859. doi: 10.1002/humu.23981. Epub 2020 Jan 25.
4
Quinidine-Responsive Polymorphic Ventricular Tachycardia in Patients With Coronary Heart Disease.冠心病患者的奎尼丁反应性多形性室性心动过速。
Circulation. 2019 May 14;139(20):2304-2314. doi: 10.1161/CIRCULATIONAHA.118.038036.
5
(Na1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.(Na1.5) 变异功能性扰动与临床表现：具有一定意义的变异。
Circ Genom Precis Med. 2018 May;11(5):e002095. doi: 10.1161/CIRCGEN.118.002095.
6
Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.3型长QT综合征的临床特征：一项国际多中心研究
Circulation. 2016 Sep 20;134(12):872-82. doi: 10.1161/CIRCULATIONAHA.116.021823. Epub 2016 Aug 26.
7
Screening for acute IKr block is insufficient to detect torsades de pointes liability: role of late sodium current.急性 IKr 阻滞筛查不足以检测尖端扭转型室性心动过速易感性：晚钠电流的作用
Circulation. 2014 Jul 15;130(3):224-34. doi: 10.1161/CIRCULATIONAHA.113.007765. Epub 2014 Jun 3.
8
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.多灶性异位浦肯野相关过早收缩：一种新的 SCN5A 相关心脏通道病。
J Am Coll Cardiol. 2012 Jul 10;60(2):144-56. doi: 10.1016/j.jacc.2012.02.052.
9
Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.心脏钠通道重叠综合征：SCN5A突变的不同表现
Trends Cardiovasc Med. 2008 Apr;18(3):78-87. doi: 10.1016/j.tcm.2008.01.002.
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Circulation. 2008 Apr 15;117(15):1927-35. doi: 10.1161/CIRCULATIONAHA.107.757955. Epub 2008 Mar 31.