A homozygous SCN5A mutation associated with atrial standstill and sudden death-Reference-Cited by-同舟云学术

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A homozygous SCN5A mutation associated with atrial standstill and sudden death

Published:2018-06-14 Issue:8 Volume:41 Page:1036-1042
ISSN:0147-8389
Container-title:Pacing and Clinical Electrophysiology
language:en
Short-container-title:Pacing Clin Electrophysiol

Author:

Tan Reina Bianca¹,Gando Ivan¹,Bu Lei²,Cecchin Frank¹,Coetzee William¹³^ORCID

Affiliation:

1. Division of Pediatric Cardiology; New York University Langone Medical Center; New York NY USA

2. Department of Medicine; NYU School of Medicine; New York NY USA

3. Departments of Physiology & Neuroscience and Biochemistry and Molecular Pharmacology; NYU School of Medicine; New York NY USA

Funder

NYU

Seventh MasonicDistrict Association, Inc

Publisher

Wiley

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pace.13386/fullpdf

Reference19 articles.

1. Structure and function of the cardiac sodium channels;Balser;Cardiovasc Res,1999

2. Sodium channel mutations and arrhythmias;Ruan;Nat Rev Cardiol,2009

3. The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology;Veerman;Gene,2015

4. Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A;Medeiros-Domingo;Heart Rhythm,2009

5. The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome;Makita;J Clin Invest,2008

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1. Unexpected Genetic Twists in Patients with Cardiac Devices;Journal of Clinical Medicine;2024-06-28

2. Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias;Frontiers in Cardiovascular Medicine;2023-07-03

3. Atrial standstill associated with lamin A/C mutation: A case report;SAGE Open Medical Case Reports;2023-01

4. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases;Heart Rhythm;2022-07

5. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases;Journal of Arrhythmia;2022-05-31

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