Voltage-gated calcium channels are the primary mediators of depolarization-induced
calcium entry into neurons. There is great diversity of calcium channel subtypes due to …

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

The neurotransmitter and neuromodulator serotonin (5-HT) functions by binding either to
metabotropic G-protein-coupled receptors (for example, 5-HT1, 5-HT2, 5-HT4 to 5-HT7) …

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 …

Voltage-gated Ca 2+ channels couple membrane depolarization to Ca 2+-dependent
intracellular signaling events. This is achieved by mediating Ca 2+ ion influx or by direct …

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 …

Recent genetic analyses have revealed an important association of the gene encoding the
P/Q-type voltage-dependent Ca2+ channel α1A subunit with hereditary neurological …

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 …