Concepedia

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

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

Gene · 2023 · 19 citations · 11 references

DOI

Concepts

References

11

Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation

Timothy M. Olson · JAMA · 2005 · 555 citations · Full text

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<i>SCN5A</i> Mutation Associated With Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia

William P. McNair, Lisa Ku, Matthew R.G. Taylor et al. · Circulation · 2004 · 443 citations · Full text

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Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene <i>Scn5a</i>

George Papadatos, Polly M. R. Wallerstein, Catherine Head et al. · Proceedings of the National Academy of Sciences · 2002 · 388 citations

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SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

William P. McNair, Gianfranco Sinagra, Matthew R.G. Taylor et al. · Journal of the American College of Cardiology · 2011 · 234 citations · Full text

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Compound Heterozygosity for Mutations (W156X and R225W) in <i>SCN5A</i> Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

Connie R. Bezzina, Martin B. Rook, W. Antoinette Groenewegen et al. · Circulation Research · 2003 · 234 citations · Full text

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