Ion channels play a central role in the regulation of nearly every cellular process. Dating
back to the classic 1952 Hodgkin–Huxley model of the generation of the action potential, ion …

Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

Coordinated expression of ion channels is crucial for cardiac rhythms, neural signaling, and
cell cycle progression. Perturbation of this balance results in many disorders including …

Brugada syndrome (BrS) is a fatal arrhythmia that causes an estimated 4% of all sudden
death in high-incidence areas. SCN5A encodes cardiac sodium channel NaV1. 5 and …

In cardiomyocytes, the rapid depolarisation of the membrane potential is mediated by the α‐
subunit of the cardiac voltage‐gated Na+ channel (NaV1. 5), encoded by the gene SCN5A …

In cardiac myocytes, the voltage‐gated sodium channel NaV1. 5 opens in response to
membrane depolarisation and initiates the action potential. The NaV1. 5 channel is typically …

Cardiac voltage‐gated sodium (Na+) channels (Nav1. 5) are crucial for myocardial electrical
excitation. Recent studies based on single‐channel recordings have suggested that Na+ …

Background Deleterious variants in the voltage-gated sodium channel type 2 (Na v 1.2) lead
to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy …

Epilepsy is a chronic neurological disorder that affects more than 50 million people
worldwide. Despite a recent introduction of antiseizure drugs for the treatment of epileptic …

Advances in next-generation sequencing have been exceptionally valuable for identifying
variants in medically actionable genes. However, for most missense variants there is …