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

Documenti analoghi

• Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
  di: Edghill, E, et al.
  Pubblicazione: (2007)
• Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
  di: Flanagan, SE, et al.
  Pubblicazione: (2006)
• 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.
  di: Gloyn, A, et al.
  Pubblicazione: (2004)
• Relapsing diabetes can result from moderately activating mutations in KCNJ11.
  di: Gloyn, A, et al.
  Pubblicazione: (2005)