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Phenotypic Severity of SCN5A Related Bradycardia is Independent of Dominant-Negative and Coupled Gating Effects

2025-08-10 cardiovascular medicine Title + abstract only
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BackgroundPathogenic SCN5A variants are associated with inherited arrhythmias such as long QT syndrome, Brugada syndrome, and sick sinus syndrome (SSS). While Nav1.5, an -subunit of the cardiac sodium channel encoded by SCN5A, has been considered to function as a monomer, recent studies reveal that a reduction of sodium current in wild-type (WT) Nav1.5 can be caused by dimerization with loss-of-function (LOF) mutated Nav1.5 through dominant-negative (DN) effects. However, the clinical significan...

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