These include congenital hyperinsulinism (CHI) associated loss-of-function Kir6.2 mutations: R54C, L56G, K67D, R176H and R177W, and SUR1 mutations: I46T, P133R, and L135V as well as neonatal diabetes (ND) and Developmental delay, Epilepsy, and Neonatal Diabetes (DEND) syndrome associated gain-of-function Kir6.2 mutations: K39R, E51A/G, Q52L/R, G53D/N/R/S/V, V59A/G/M, W68C/G/L/R, K170N/R/T, E179A/K, and SUR1 mutations: P45L, I49F, F132L/V, and L135P (Fig. 8)56. The gene discussed is KCNJ11; the disease is Norrie disease.