Article
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
Neurology - 25 Sept 2007
Shimomura K, Hörster F, de Wet H, Flanagan S E, Ellard S, Hattersley A T, Wolf N I, Ashcroft F, Ebinger F
Abstract excerpt
OBJECTIVES: Activating mutations in the human KCNJ11 gene, encoding the pore-forming subunit (Kir6.2) of the ATP-sensitive potassium (K(ATP)) channel, are one cause of neonatal diabetes mellitus. In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). The aim of this study was to determine the clinical effects, functional cause, and sensitivity to...
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