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Zhou, V. CACNA1C Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5034 (accessed on 22 September 2026).
Zhou V. CACNA1C Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5034. Accessed September 22, 2026.
Zhou, Vicky. "CACNA1C Gene" Encyclopedia, https://encyclopedia.pub/entry/5034 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CACNA1C Gene. In Encyclopedia. https://encyclopedia.pub/entry/5034
Zhou, Vicky. "CACNA1C Gene." Encyclopedia. Web. 24 December, 2020.
CACNA1C Gene
Edit

calcium voltage-gated channel subunit alpha1 C

genes

References

  1. Fukuyama M, Wang Q, Kato K, Ohno S, Ding WG, Toyoda F, Itoh H, Kimura H,Makiyama T, Ito M, Matsuura H, Horie M. Long QT syndrome type 8: novel CACNA1Cmutations causing QT prolongation and variant phenotypes. Europace. 2014Dec;16(12):1828-37. doi: 10.1093/europace/euu063.
  2. Gardner RJM, Crozier IG, Binfield AL, Love DR, Lehnert K, Gibson K, LintottCJ, Snell RG, Jacobsen JC, Jones PP, Waddell-Smith KE, Kennedy MA, Skinner JR.Penetrance and expressivity of the R858H CACNA1C variant in a five-generationpedigree segregating an arrhythmogenic channelopathy. Mol Genet Genomic Med. 2019Jan;7(1):e00476. doi: 10.1002/mgg3.476.
  3. Liao P, Yong TF, Liang MC, Yue DT, Soong TW. Splicing for alternativestructures of Cav1.2 Ca2+ channels in cardiac and smooth muscles. Cardiovasc Res.2005 Nov 1;68(2):197-203.
  4. Napolitano C, Antzelevitch C. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel. Circ Res. 2011 Mar 4;108(5):607-18. doi: 10.1161/CIRCRESAHA.110.224279. Review.
  5. Napolitano C, Splawski I, Timothy KW, Bloise R, Priori SG. Timothy Syndrome.2006 Feb 15 [updated 2015 Jul 16]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1403/
  6. Paar V, Jirak P, Larbig R, Zagidullin NS, Brandt MC, Lichtenauer M, Hoppe UC, Motloch LJ. Pathophysiology of Calcium Mediated Ventricular Arrhythmias and NovelTherapeutic Options with Focus on Gene Therapy. Int J Mol Sci. 2019 Oct24;20(21). pii: E5304. doi: 10.3390/ijms20215304. Review.
  7. Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, SanguinettiMC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calciumchannel mutations. Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96;discussion 8086-8.
  8. Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC,Keating MT. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorderincluding arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31.
  9. Wemhöner K, Friedrich C, Stallmeyer B, Coffey AJ, Grace A, Zumhagen S, SeebohmG, Ortiz-Bonnin B, Rinné S, Sachse FB, Schulze-Bahr E, Decher N. Gain-of-functionmutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT butnot Timothy syndrome. J Mol Cell Cardiol. 2015 Mar;80:186-95. doi:10.1016/j.yjmcc.2015.01.002.
  10. Yamakage M, Namiki A. Calcium channels--basic aspects of their structure,function and gene encoding; anesthetic action on the channels--a review. Can JAnaesth. 2002 Feb;49(2):151-64. Review.
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Update Date: 24 Dec 2020
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