The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

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 …

Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been
mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca 2+ channel …

Ion channels are membrane proteins that act as gated pathways for the movement of ions
across cell membranes. They play essential roles in the physiology of all cells. In recent …

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 …

By the introduction of technological advancement in methods of structural analysis,
electronics, and recombinant DNA techniques, research in physiology has become …

When a vertebrate skeletal muscle fibre is activated by a nerve impulse, an action potential
spreads from the endplate region along the whole fibre. It enters the transverse tubular …

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

Malignant hyperthermia susceptibility (MHS) is characterized by genetic heterogeneity.
However, except for the MHS1 locus, which corresponds to the skeletal muscle ryanodine …

Voltage-activated calcium channels regulate the intracellular calcium concentration and
contribute thereby to calcium signalling in numerous cell types. These channels are widely …