Switching to Sulphonylureas in Children With iDEND Syndrome Caused by KCNJ11 Mutations Results in Improved Cerebellar Perfusion

OBJECTIVE: Activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the K(ATP) channel, result in permanent neonatal diabetes mellitus. They also may cause neurologic symptoms such as mental retardation and motor problems (iDEND syndrome) and epilepsy (DEND syndrome). Sulphonylurea (S...

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Bibliographische Detailangaben
Hauptverfasser: Fendler, Wojciech, Pietrzak, Iwona, Brereton, Melissa F., Lahmann, Carolina, Gadzicki, Mariusz, Bienkiewicz, Malgorzata, Drozdz, Izabela, Borowiec, Maciej, Malecki, Maciej T., Ashcroft, Frances M., Mlynarski, Wojciech M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Diabetes Association 2013
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Original Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3714477/
https://ncbi.nlm.nih.gov/pubmed/23462667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/dc12-2166
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