Human muscle voltage-gated ion channels and hereditary disease

Abstract

Insights in the field of ion channels were made possible by the Nobel-prize-winning patch-clamp technique that enables characterization of channel function, and have greatly been inspired by associated diseases pointing to regions of functional significance. These so-called ion channelopathies have common clinical features, recurrent patterns of mutations, and almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are associated with mutations in Na+, K+, Ca2+, and Cl- channels that lead to hypoexcitability (causing periodic paralysis) and to hyperexcitabilty (causing myotonia or susceptibility to malignant hyperthermia).