These analogous mutations are also associated with substantial disease burdens, like early infantile epileptic encephalopathy with developmental delay (Cav2.1 A711T, Cav2.3 A700T; refs. 47, 48) or childhood-onset cerebellar atrophy (Cav3.1 A961T; refs. 49, 50) (Supplemental Figure 1C). The gene discussed is CACNA1A; the disease is Global developmental delay.