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

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

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 …

Sequencing of the T-type Ca2+ channel gene CACNA1H revealed 12 nonsynonymous
single nucleotide polymorphisms (SNPs) that were found only in childhood absence …

The heritable muscle disorder hypokalemic periodic paralysis (HypoPP) is characterized by
attacks of flaccid weakness, brought on by sustained sarcolemmal depolarization. HypoPP …

The past two decades have witnessed the emergence of a new and expanding field of
neurological diseases—the genetic ion channelopathies. These disorders arise from …

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 …

Mutations of voltage‐gated ion channels cause several channelopathies of skeletal muscle,
which present clinically with myotonia, periodic paralysis, or a combination of both …