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Sudden Cardiac Death and Channelopathies: What Lies behind the Clinical Significance of Rare Splice-Site Alterations in the Genes Involved?

Genes - 27 Sept 2024

Pesaresi Mauro, Bernini Di Michele Alessia, Melchionda Filomena, Onofri Valerio, Alessandrini Federica, Turchi Chiara

Abstract excerpt

Background and objectives: Sudden cardiac death (SCD) is a natural and unexpected death of cardiac origin that occurs within 1 h from the onset of acute symptoms. The major leading causes of SCD are cardiomyopathies and channelopathies. In this review, we focus on channelopathies, inherited diseases caused by mutations affecting genes encoding membrane ion channels (sodium, potassium or calcium channels) or...

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Identifiers

PMID: 39457396
DOI: 10.3390/genes15101272
PMCID: PMC11507433

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