Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

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

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

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 …

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 …

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 …

The pathogenesis of thyrotoxic periodic paralysis has long been thought related to
increased Na+–K+ ATPase activity stimulated by thyroid hormone and/or hyperadrenergic …

Malfunctions of voltage-gated sodium and calcium channels (encoded by SCNxA and
CACNA1x family genes, respectively) have been associated with severe neurologic …

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

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 …