Abnormal channel function, resulting from inherited gain or loss-of-function mutations in either the Kir6.x and/or SUR subunits are associated with severe diseases such as neonatal diabetes, congenital hyperinsulinism and CS (Remedi and Nichols, 2009; Harakalova et al., 2012). This evidence concerns the gene ABCC8 and Cowden syndrome 1.