Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.
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ABSTRACT: Cav 1.3 belongs to the family of voltage-gated L-type Ca2+ channels and is encoded by the CACNA1D gene. Cav 1.3 channels are not only essential for cardiac pacemaking, hearing and hormone secretion but are also expressed postsynaptically in neurons, where they shape neuronal firing and plasticity. Recent findings provide evidence that human mutations in the CACNA1D gene can confer risk for the development of neuropsychiatric disease and perhaps also epilepsy. Loss of Cav 1.3 function, as shown in knock-out mouse models and by human mutations, does not result in neuropsychiatric or neurological disease symptoms, whereas their acute selective pharmacological activation results in a depressive-like behaviour in mice. Therefore it is likely that CACN
SUBMITTER: Pinggera A
PROVIDER: S-EPMC4823145 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
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