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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: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2013
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| 主題: | |
| 在線閱讀: | 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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