Timothy syndrome is a multisystem disorder caused by gain-of-function mutations in the L-type calcium channel CaV1.2 encoded by CACN1C gene, leading to LQTS type 8, and additional impairments such as webbing of fingers and toes, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism [252]. The gene discussed is CACNA1C; the disease is Timothy syndrome.