CACNA1C and Timothy syndrome: Gain of function mutations in the calcium channel gene CACNA1C (coding for Cav1.2 channel), is associated with Timothy syndrome (TS; prevalence: <1/1000,000), a rare multiorgan system disorder that comprises long QT syndrome, seizures, autistic traits, dysmorphic features, developmental delay and immunodeficiency (Splawski et al., 2004; Bader et al., 2011; Diep and Seaver, 2015).