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

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

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Main Authors: Gershon, Elliot S., Grennan, Kay, Busnello, Joao, Badner, Judith A., Ovsiew, Fred, Memon, Shoaib, Alliey-Rodriguez, Ney, Cooper, Joseph, Romanos, Ben, Liu, Chunyu
Format: Artigo
Language:Inglês
Published: 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4151967/
https://ncbi.nlm.nih.gov/pubmed/23979604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mp.2013.107
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