Calcium Channelopathies: Voltage-Gated Calcium Channels [chapter]

P.J. ADAMS, T.P. SNUTCH
Subcellular Biochemistry  
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
more » ... 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 Keywords: calcium channel, L-type, P/Q-type, T-type, 1 subunit, subunit, 2 subunit, subunit, familial hemiplegic migraine, episodic ataxia type 2, spinocerebellar ataxia type 6, Lambert-Eaton myasthenic syndrome, incomplete X-linked congenital stationary night blindness, X-linked cone-rod dystrophy, hypokalemic periodic paralysis, malignant hyperthermia susceptibility, Timothy syndrome, idiopathic generalized epilepsy, autism spectrum disorders, lethargic, ducky, stargazin 1.
doi:10.1007/978-1-4020-6191-2_8 fatcat:bmfahuymrvad7bmmkom2urqkqu