Calcium channelopathies: voltage-gated calcium channels.
Since the initial identification of native calcium currents, significant progress has been made towards our understanding of the molecular and cellular contributions of voltage-gated calcium channels in multiple physiological processes. Moreover, we are beginning to comprehend their pathophysiological roles through both naturally occurring channelopathies in humans and mice and through targeted gene deletions. The data illustrate that small perturbations in voltage-gated calcium channel function induced by genetic alterations can affect a wide variety of mammalian developmental, physiological and behavioral functions. At least in those instances wherein the channelopathies can be attributed to gain-of-function mechanisms, the data point towards new therapeutic strategies for developing highly selective calcium channel antagonists.
Adams
P J
PJ
Michael Smith Laboratorie, University of British Columbia, Vancouver, BC, Canada V6T1Z4.
Snutch
T P
TP
D019943:Amino Acid Substitution; D000818:Animals; D001321:Autistic Disorder / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics / Q000502:physiology*; D020746:Calcium Channels, L-Type / Q000235:genetics; D020865:Calcium Channels, P-Type / Q000502:physiology; D020907:Calcium Channels, Q-Type / Q000502:physiology; D020747:Calcium Channels, T-Type / Q000235:genetics; D002524:Cerebellar Ataxia / Q000503:physiopathology; D004829:Epilepsy, Generalized / Q000235:genetics; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics; D015624:Lambert-Eaton Myasthenic Syndrome / Q000503:physiopathology; D051379:Mice; D020325:Migraine with Aura / Q000235:genetics / Q000503:physiopathology; D020754:Spinocerebellar Ataxias / Q000503:physiopathology; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D020865:Calcium Channels, P-Type; D020907:Calcium Channels, Q-Type; D020747:Calcium Channels, T-Type; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C113330:CACNA1F protein, human; C479952:CACNA1H protein, human