The heart is a rhythmic electromechanical pump, the functioning of which depends on action
potential generation and propagation, followed by relaxation and a period of refractoriness …

Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

▪ Abstract The normal electrophysiologic behavior of the heart is determined by ordered
propagation of excitatory stimuli that result in rapid depolarization and slow repolarization …

The Brugada syndrome (BS) is a distinct form of idiopathic ventricular fibrillation and may
cause sudden cardiac death in healthy young individuals. In the surface ECG, BS can be …

The β subunits of voltage-gated Na channels (Scnxb) regulate the gating of pore-forming α
subunits, as well as their trafficking and localization. In heterologous expression systems …

Defects of the SCN5A gene encoding the cardiac sodium channel α-subunit are associated
with both the long QT-3 (LQT-3) subtype of long-QT syndrome and Brugada syndrome (BrS) …

Voltage-gated Na+ channels mediate the rapid upstroke of the action potential in excitable
tissues. Nav1. 5, encoded by the SCN5A gene, is the predominant isoform in the heart …

Background—Congenital long QT syndrome (LQTS), a cardiac ion channel disease, is an
important cause of sudden cardiac death. Prolongation of the QT interval has recently been …

Electrical activity in nerve, skeletal muscle, and heart requires finely tuned activity of voltage-
gated Na+ channels that open and then enter a nonconducting inactivated state upon …