Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome-Reference-Cited by-同舟云学术

Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome

Published:2020-11-11 Issue:12 Volume:41 Page:2195-2204
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pearman Charles M.¹²^ORCID,Denham Nathan C.¹²,Mills Robert W.³,Ding Wern Y.¹⁴,Modi Simon S.¹,Hall Mark C. S.¹,Todd Derick M.¹,Mahida Saagar¹⁴

Affiliation:

1. Department of Cardiac Electrophysiology and Inherited Cardiac Conditions Liverpool Heart and Chest Hospital Liverpool UK

2. Unit of Cardiac Physiology, Division of Cardiovascular Sciences, Manchester Academic Health Science Centre, Core Technology Facility University of Manchester Manchester UK

3. Cardiovascular Research Center Massachusetts General Hospital Charlestown Massachusetts USA

4. Liverpool Centre for Cardiovascular Science, Faculty of Life Sciences University of Liverpool Liverpool UK

Funder

National Institute for Health Research

British Heart Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24128

Reference30 articles.

1. Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties

2. Novel Mechanism for Brugada Syndrome

3. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

4. Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

5. Genetic interpretation and clinical translation of minor genes related to Brugada syndrome

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