Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings-Reference-Cited by-同舟云学术

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Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings

Published:2016-03-02 Issue:5 Volume:39 Page:497-501
ISSN:0147-8389
Container-title:Pacing and Clinical Electrophysiology
language:en
Short-container-title:Pacing and Clinical Electrophysiology

Author:

WALSH MARK A.¹²,STUART ALAN G.¹²,SCHLECHT HELENE B.³,JAMES ANDREW F.⁴,HANCOX JULES C.⁴,NEWBURY-ECOB RUTH A.⁵

Affiliation:

1. Bristol Royal Hospital for Children; Bristol UK

2. Bristol Heart Institute; Bristol UK

3. Genomic Diagnostics laboratory; Manchester Centre for Genomic Medicine; Manchester UK

4. School of Physiology and Pharmacology, Cardiovascular Research Laboratories; University of Bristol; Bristol UK

5. Department of Clinical Genetics; University Hospitals Bristol; Bristol UK

Publisher

Wiley

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pace.12813/fullpdf

Reference13 articles.

1. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human;Roux-Buisson;Hum Mol Genet,2012

2. Impact of genetics on the clinical management of channelopathies;Schwartz;J Am Coll Cardiol,2013

3. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death;Nyegaard;Am J Hum Genet,2012

4. Homozygous/compound heterozygous triadin mutations associated with autosomal-recessive long-QT syndrome and pediatric sudden cardiac arrest: Elucidation of the triadin knockout syndrome;Altmann;Circulation,2015

5. Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias;Chopra;Proc Natl Acad Sci U S A,2009

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1. Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes;Stem Cell Reports;2023-05

2. The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease;Frontiers in Cardiovascular Medicine;2022-06-15

3. A very rare cause of sudden cardiac arrest in children: triadin knockout syndrome;Cardiology in the Young;2022-04-28

4. Generation of a Triadin KnockOut Syndrome Zebrafish Model;International Journal of Molecular Sciences;2021-09-08

5. Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome;American Journal of Medical Genetics Part A;2021-08-20

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