A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1-Reference-Cited by-同舟云学术

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A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1

Published:2018-07-14 Issue:1 Volume:34 Page:177-188
ISSN:0910-8327
Container-title:Heart and Vessels
language:en
Short-container-title:Heart Vessels

Author:

Chen Xiao-Meng,Guo Kai,Li Hong,Lu Qiu-Fen,Yang Chao,Yu Ying,Hou Jian-Wen,Fei Yu-Dong,Sun Jian,Wang Jun,Li Yi-Xue,Li Yi-Gang

Funder

National Natural Science Foundation of China

Doctoral Innovation Fund Projects from Shanghai Jiao Tong University School of Medicine

State Key Program of National Natural Science Foundation of China

Shanghai City Committee of Science and Technology Research Projects

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine

Link

http://link.springer.com/article/10.1007/s00380-018-1223-4/fulltext.html

Reference26 articles.

1. Schwartz PJ, Crotti L, Insolia R (2012) Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol 5:868–877

2. Obeyesekere MN, Antzelevitch C, Krahn AD (2015) Management of ventricular arrhythmias in suspected channelopathies. Circ Arrhythm Electrophysiol 8:221–231

3. Jons C, Moss AJ, Lopes CM, McNitt S, Zareba W, Goldenberg I, Qi M, Wilde AA, Shimizu W, Kanters JK, Towbin JA, Ackerman MJ, Robinson JL (2009) Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. J Cardiovasc Electrophysiol 20:859–865

4. Goldenberg I, Horr S, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, Andrews ML, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Napolitano C, Platonov PG, Priori SG, Qi M, Schwartz PJ, Shimizu W, Towbin JA, Vincent GM, Wilde AA, Zhang L (2011) Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol 57:51–59

5. Ruwald MH, Xu Parks X, Moss AJ, Zareba W, Baman J, McNitt S, Kanters JK, Shimizu W, Wilde AA, Jons C, Lopes CM (2016) Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. Heart Rhythm 13:122–131

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4. Disruption of asparagine-linked glycosylation to rescue and alter gating of the NaV1.5-Na+ channel;Heart and Vessels;2021-01-03

5. Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome;Frontiers in Pharmacology;2020-05-04

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