Cav1.2

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Cav1.2

Mutations in Cav1.2 (voltage-gated L-type calcium channels) channels that increase opening probability are the cause of lethal cardiac arrhythmias and autism in humans with Timothy's Syndrome.1 Furthermore, clusters of Cav1.2 channels can participate in coupled gating. L-coupled gating then may increase the probability of calcium dependent arrhythmias and increase Ca2+ dependent neurotoxicity. 2






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References

1. Splawski I et. al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.Cell. 2004 Oct 1;119(1):19-31. PMID 15454078

2. Navedo MF et. al. Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome. Circ Res. 2010 Mar 5;106(4):748-56. PMID 20110531