Optimal cardiac function depends on proper timing of excitation and contraction in various
regions of the heart, as well as on appropriate heart rate. This is accomplished via …

There are few areas in cardiology in which the impact of genetics and genetic testing on
clinical management has been as great as in cardiac channelopathies, arrhythmic disorders …

The complexity of cardiac electrophysiology, involving dynamic changes in numerous
components across multiple spatial (from ion channel to organ) and temporal (from …

Ion channels represent the molecular entities that give rise to the cardiac action potential,
the fundamental cellular electrical event in the heart. The concerted function of these …

Background—β-Adrenergic stimulation is the main trigger for cardiac events in type 1 long-
QT syndrome (LQT1). We evaluated a possible association between ion channel response …

Protein phosphorylation is a major control mechanism of a wide range of physiological
processes and plays an important role in cardiac pathophysiology. Serine/threonine protein …

Background: The explosive growth in known human gene variation presents enormous
challenges to current approaches for variant classification that have implications for …

Aims Mutation type, location, dominant-negative I Ks reduction, and possibly loss of cyclic
adenosine monophosphate (cAMP)-dependent I Ks stimulation via protein kinase A (PKA) …

Background: A puzzling feature of the long QT syndrome (LQTS) is that family members
carrying the same mutation often have divergent symptoms and clinical outcomes …

Congenital long-QT syndrome (LQTS) is an inherited cardiac disorder characterized by the
prolongation of ventricular repolarization, susceptibility to Torsades de Pointes (TdP), and a …