Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal
muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis …

Familial disorders of skeletal muscle excitability were initially described early in the last
century and are now known to be caused by mutations of voltage-gated ion channels. The …

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …

A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm,
and nervous system function have been traced to mutations in genes encoding voltage …

Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal,
often potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid …

The Na V 1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost
all of the inward Na+ current that generates the action potential, but is not present at …

Cannabidiol (CBD) is the primary nonpsychotropic phytocannabinoid found in Cannabis
sativa, which has been proposed to be therapeutic against many conditions, including …

The non-dystrophic myotonias are an important group of skeletal muscle channelopathies
electrophysiologically characterized by altered membrane excitability. Many distinct clinical …

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐
function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene …

Background: Several missense mutations of CACNA1S and SCN4A genes occur in
hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage …