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A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Abstract:

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 sulfonylurea treatment of a novel KCNJ11 mutation producing DEND syndrome. METHO...

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Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
Journal:
Neurology
Volume:
69
Issue:
13
Pages:
1342-1349
Publication date:
2007-09-01
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
Source identifiers:
237397

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