Article
Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 31 Oct 2012
Gao Zhenyu, Todorov Boyan, Barrett Curtis F, van Dorp Stijn, Ferrari Michel D, van den Maagdenberg Arn M J M, De Zeeuw Chris I, Hoebeek Freek E
Abstract excerpt
Mutations in the CACNA1A gene are associated with neurological disorders, such as ataxia, hemiplegic migraine, and epilepsy. These mutations affect the pore-forming α(1A)-subunit of Ca(V)2.1 channels and thereby either decrease or increase neuronal Ca(2+) influx. A decreased Ca(V)2.1-mediated Ca(2+) influx has been shown to reduce the regularity of cerebellar Purkinje cell activity and to induce episodic...
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