KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

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• Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
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• Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
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• Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
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• Relapsing diabetes can result from moderately activating mutations in KCNJ11.
  由: Gloyn, A, et al.
  出版: (2005)