SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death-Reference-Cited by-同舟云学术

SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death

Published:2024-03 Issue: Volume:898 Page:148093
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Shi Jiaying,Pan Xueqi,Wang Zhaokun,Yi Ming,Xie Shengyu,Zhang Xinyue,Tao Dachang,Yang Yuan,Liu Yunqiang

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference19 articles.

1. Ion channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac death;Abriel;Circ. Res.,2015

2. SCN5A mutation type and topology are associated with the risk of ventricular arrhythmia by sodium channel blockers;Amin;Int. J. Cardiol.,2018

3. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system;Bezzina;Circ. Res.,2003

4. Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities;Frigo;Europace,2007

5. Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21;George;Cytogenet. Cell Genet.,1995

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