The more common aberrations are Fragile X syndrome, a mutation in FMR1 (Kaiser-McCaw et al., 1980), Rett syndrome, a mutation in MECP2 (Meloni et al., 2000), tuberous sclerosis, mutations in TSC1 or TSC2 (Green et al., 1994), Timothy syndrome, a mutation in CACNA1C (Gillis et al., 2012), and Hamartoma tumor syndrome, a mutation of the PTEN gene. The gene discussed is CACNA1C; the disease is Timothy syndrome.