[Human calcium channelopathies. Voltage-gated Ca(2+) channels in etiology, pathogenesis, and pharmacotherapy of neurologic disorders].
Voltage-gated calcium channels are key components in a variety of physiological processes. Within the last decade an increasing number of voltage-gated Ca(2+) channelopathies in both humans and animal models has been described, most of which are related to the neurologic and muscular system. In humans, mutations were found in L-type Ca(v)1.2 and Ca(v)1.4 Ca(2+) channels as well as the non-L-type Ca(v)2.1 and T-type Ca(v)3.2 channels, resulting in altered electrophysiologic properties. Based on their widespread distribution within the CNS, voltage-gated calcium channels are of particular importance in the etiology and pathogenesis of various forms of epilepsy and neuropsychiatric disorders. In this review we characterise the different human Ca(2+) channelopathies known so far, further illuminating basic pathophysiologic mechanisms and clinical aspects.
Weiergräber
M
M
Institut für Neurophysiologie, Medizinische Einrichtungen, Universität zu Köln, Robert-Koch-Strasse 39, 50931, Köln, Deutschland. akp74@uni-koeln.de
Hescheler
J
J
Schneider
T
T
D015220:Calcium Channels / Q000235:genetics* / Q000502:physiology; D053447:Channelopathies / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D004252:DNA Mutational Analysis; D005817:Genetic Counseling; D005820:Genetic Testing; D015316:Genetic Therapy; D006801:Humans; D020511:Neuromuscular Junction Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
D015220:Calcium Channels