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 syndrome is a long QT interval that results in cardiac arrhythmias. However, TS also includes cognitive impairment, autism...
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