Cav1.2 - Clinical Significance

Clinical Significance

Mutation in the CACNA1C gene are associated with a variant of Long QT syndrome called Timothy's syndrome and also with Brugada syndrome. A large-scale genetic analysis conducted in 2008 shows the possibility that CACNA1C is associated with bipolar disorder and subsequently also with schizophrenia., Also, CACNA1C A risk allele has been associated to a disruption in brain connectivity in patients with bipolar disorder, while not or only to a minor degree, in their unaffected relatives or healthy controls.