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Article

A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.

Molecular psychiatry - 1 Aug 2014

Gershon E S, Grennan K, Busnello J, Badner J A, Ovsiew F, Memon S, Alliey-Rodriguez N, Cooper J, Romanos B, Liu C

Abstract excerpt

Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2 voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syn...

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Identifiers

PMID: 23979604
DOI: 10.1038/mp.2013.107
PMCID: PMC4151967

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23979604-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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