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 …

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

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 …

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

The pathomechanism of familial hypokalemic periodic paralysis (HypoPP) is a mystery,
despite knowledge of the underlying dominant point mutations in the dihydropyridine …

Ion channelopathies are a diverse array of human disorders caused by mutations in ion
channel genes. This review focuses on the pathogenic mechanisms of channelopathies …

Objective: To search for mutations in the calcium channel gene CACNA1A and to study the
genotype–phenotype correlation in a family with a severe familial hemiplegic migraine …

CaV1. 1 is the prototype for the other nine known CaV channel isoforms, yet it has functional
properties that make it truly atypical of this group. Specifically, CaV1. 1 is expressed solely in …

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 …

Ion channelopathies have common clinical features, recurrent patterns of mutations, and
almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are …