Mutations in VGCCs and altered Ca2+ influx are associated with a plethora of human diseases including cardiac arrhythmias and psychiatric diseases (Cav1.2), autism spectrum disorder and primary aldosteronism (Cav1.3), various X-linked retinal disorders (Cav1.4), familial hemiplegic migraine (Cav2.1), epilepsy (Cav1.3, Cav2.1, Cav3.2) and several forms of ataxia (Cav2.1, Cav3.1)8–11. The gene discussed is CACNA1D; the disease is cerebellar ataxia.