In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

Evidence accumulated over recent years has shown that genetic neurological
channelopathies can cause many different neurological diseases. Presentations relating to …

Context Nondystrophic myotonias (NDMs) are rare diseases caused by mutations in skeletal
muscle ion channels. Patients experience delayed muscle relaxation causing functionally …

Background—Mexiletine (Mex) has been proposed as a gene-specific therapy for patients
with long-QT syndrome type 3 (LQT3) caused by mutations in the cardiac sodium channel …

Because ion channels are involved in many cellular processes, drugs acting on ion
channels have long been used for the treatment of many diseases, especially those affecting …

Modeling cardiac disorders with human induced pluripotent stem cell (hiPSC)-derived
cardiomyocytes is a new paradigm for preclinical testing of candidate therapeutics …

Background—Many long-QT syndrome (LQTS) mutations in the cardiac Na+ channel result
in a gain of function due to a fraction of channels that fail to inactivate (burst), leading to …

Aims SCN5A mutations are associated with various cardiac phenotypes, including long QT
syndrome type 3 (LQT3), Brugada syndrome (BrS), and cardiac conduction disease (CCD) …

Purpose of review This article aims to review the current and upcoming treatment options of
primary muscle channelopathies including the non-dystrophic myotonias and periodic …

Membrane excitability, which is critical for the function of muscle and nerve, is regulated by
voltage-gated ion channels. It is therefore not surprising that ion channels are involved in the …