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References

These sources were used to develop the Genetics Home Reference gene summary on the CACNA1C gene.

Entrez Gene
Gene Review: Timothy Syndrome
Liao P, Yong TF, Liang MC, Yue DT, Soong TW. Splicing for alternative structures of Cav1.2 Ca2+ channels in cardiac and smooth muscles. Cardiovasc Res. 2005 Nov 1;68(2):197-203. Epub 2005 Jul 27. Review. PubMed citation
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29. PubMed citation
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 disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. PubMed citation
Yamakage M, Namiki A. Calcium channels--basic aspects of their structure, function and gene encoding; anesthetic action on the channels--a review. Can J Anaesth. 2002 Feb;49(2):151-64. Review. PubMed citation

Reviewed: January 2008

Published: May 20, 2013