• Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.

      Kapoor, R R; Flanagan, S E; James, C T; McKiernan, J; Thomas, A M; Harmer, S C; Shield, J P; Tinker, A; Ellard, S; Hussain, K; et al. (Springer, 2011-10)
      Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH). As controversy exists over whether these mutations predispose to diabetes in adulthood we investigated the prevalence of diabetes in families with dominantly inherited ATP-sensitive potassium (K(ATP)) channel mutations causing HH in the proband.