ESPE Abstracts

The ATP-sensitive potassium (KATP) channel couples beta cell electrical activity to glucose-stimulated insulin secretion. Loss-of-function variants in either the regulatory (sulfonylurea receptor 1, encoded by ABCC8) or the pore-forming (inwardly rectifying potassium channel 6.2 [Kir6.2], encoded by KCNJ11) subunits result in congenital hyperinsulinism (CHI), whereas gain-of-function mutations cause neonatal diabetes. Patients with two recessive loss-of-funct...