Sodium is an essential ion that plays a central role in many physiological processes
including the transmembrane electrochemical gradient and the maintenance of the body's …

Ca V 1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of
skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type …

Background Gaps in our understanding of genetic susceptibility to malignant hyperthermia
(MH) limit the application and interpretation of genetic diagnosis of the condition. Our aim …

Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare
genetic disorders caused by mutations in genes encoding ion channel subunits in the …

The gating pore current, also called omega current, consists of a cation leak through the
typically nonconductive voltage-sensor domain (VSD) of voltage-gated ion channels …

Voltage sensor domains (VSDs) are a feature of voltage gated ion channels (VGICs) and
voltage sensitive proteins. They are composed of four transmembrane (TM) segments (S1 …

The periodic paralyses are a group of skeletal muscle channelopathies characterizeed by
intermittent attacks of muscle weakness often associated with altered serum potassium …

Advances in genetic, clinical, diagnostic and pathomechanistic understanding of skeletal
muscle channelopathies are being translated into improved therapies. Mexiletine is the first …

Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may
experience paralytic episodes with concomitant hypokalemia (serum potassium< 3.5 …

Voltage gated sodium channels (Nav) are transmembrane proteins responsible for action
potential initiation. Mutations mainly located in the voltage sensor domain (VSD) of Nav1. 5 …