Article
The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.
Heart failure reviews - 1 Jan 2025
Vouloagkas Ioannis, Agbariah Andrea, Zegkos Thomas, Gossios Thomas D, Tziomalos Georgios, Parcharidou Despoina, Didagelos Matthaios, Kamperidis Vasileios, Ziakas Antonios, Efthimiadis Georgios K
Abstract excerpt
The SCN5A gene encodes the alpha subunit of the cardiac sodium channel, which plays a fundamental role in the generation and propagation of the action potential in the heart muscle. During the past years our knowledge concerning the function of the cardiac sodium channel and the diseases caused by mutations of the SCN5A gene has grown. Although initially SCN5A pathogenic variants were mainly associated with...
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