KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.


Heterozygous mutations of the KCNJ11 gene encoding the Kir6.2 subunit of the ATP-sensitive potassium channel (K(ATP) channel) of the pancreatic β-cell cause diabetes in about 30-60% of all permanent neonatal diabetes mellitus cases diagnosed before 6 months of age. The K(ATP) channel plays an essential role in the regulation of the electrical status of the… (More)
DOI: 10.1111/j.1399-5448.2010.00743.x


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