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Journal article

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

Abstract:

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...

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Publication status:
Published

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Publisher copy:
10.1038/ncpneuro0640

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Journal:
Nature clinical practice. Neurology
Volume:
3
Issue:
11
Pages:
640-645
Publication date:
2007-11-05
DOI:
EISSN:
1745-8358
ISSN:
1745-834X
URN:
uuid:1f2480ce-50ff-4d1b-bbea-f01e52e17323
Source identifiers:
114764
Local pid:
pubs:114764

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