The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
Key Clinical Message: In infants, especially with novel previously undescribed mutations of the KATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second trial of glibenclamide at higher than standard doses if th...
Main Authors: | O'Connell, S, Proks, P, Kramer, H, Mattis, K, Sachse, G, Joyce, C, Houghton, J, Ellard, S, Hattersley, A, Ashcroft, F, O'Riordan, S |
---|---|
Format: | Journal article |
Published: |
John Wiley and Sons Ltd
2015
|
Similar Items
-
Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
by: Proks, P, et al.
Published: (2005) -
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
by: Proks, P, et al.
Published: (2004) -
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
by: Männikkö, R, et al.
Published: (2010) -
Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
by: Craig, T, et al.
Published: (2008) -
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
by: Shimomura, K, et al.
Published: (2006)