Article
Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
PloS one - 1 Jan 2013
McTaggart James S, Jenkinson Ned, Brittain John-Stuart, Greeley Siri A W, Hattersley Andrew T, Ashcroft Frances M
Abstract excerpt
BACKGROUND: Gain-of-function mutations in the ATP-sensitive potassium channel can cause permanent neonatal diabetes mellitus (PNDM) or neonatal diabetes accompanied by a constellation of neurological symptoms (iDEND syndrome). Studies of a mouse model of iDEND syndrome revealed that cerebellar Purkinje cell electrical activity was impaired and that the mice exhibited poor motor coordination. In this study, we...
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