Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation

Gain-of-function mutations of KCNJ11 can cause permanent neonatal diabetes mellitus, but only rarely after 6 months of age. Specific uncommon mutations KCNJ11 give rise to a syndrome defined as developmental delay, epilepsy, and neonatal diabetes (DEND), or – more frequently – to a milder sub-type l...

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Main Authors: Battaglia, Domenica, Lin, Yu-Wen, Brogna, Claudia, Crinò, Antonino, Grasso, Valeria, Mozzi, Alessia F, Russo, Lucia, Spera, Sabrina, Colombo, Carlo, Ricci, Stefano, Nichols, Colin G, Mercuri, Eugenio, Barbetti, Fabrizio
פורמט: Artigo
שפה:Inglês
יצא לאור: 2012
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3747824/
https://ncbi.nlm.nih.gov/pubmed/22694282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-5448.2012.00874.x
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