BACKGROUND: A 12-week-old female presented with neonatal diabetes. Insulin therapy alleviated the diabetes, but the patient showed marked motor and mental developmental delay. The patient underwent genetic evaluation at the age of 6 years, prompted by reports that mutations in the KCNJ11 gene caused neonatal diabetes. INVESTIGATIONS: Genomic sequencing of the ATP-sensitive potassium (K(ATP)) channel gene KCNJ11 and in vitro functional analysis of the channel defect, and single-photon emissio...Expand abstract
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Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.
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