The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
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 the expected response is not observed.
Department of Paediatrics and Child Health, Cork University Hospital Cork, Ireland.
Susan M
SM
O'Connell
Department of Physiology Anatomy & Genetics Parks Road, University of Oxford Oxford, OX1 3PT, UK.
Peter
P
Proks
Department of Physiology Anatomy & Genetics Parks Road, University of Oxford Oxford, OX1 3PT, UK.
Holger
H
Kramer
Department of Physiology Anatomy & Genetics Parks Road, University of Oxford Oxford, OX1 3PT, UK.
Katia K
KK
Mattis
Department of Physiology Anatomy & Genetics Parks Road, University of Oxford Oxford, OX1 3PT, UK.
Gregor
G
Sachse
Department of Biochemistry, Cork University Hospital Cork, Ireland.
Caroline
C
Joyce
Institute of Biomedical and Clinical Science, University of Exeter Medical School Exeter, EX2 5AD, UK.
Jayne A L
JA
Houghton
Institute of Biomedical and Clinical Science, University of Exeter Medical School Exeter, EX2 5AD, UK.
Sian
S
Ellard
Institute of Biomedical and Clinical Science, University of Exeter Medical School Exeter, EX2 5AD, UK.
Andrew T
AT
Hattersley
Department of Physiology Anatomy & Genetics Parks Road, University of Oxford Oxford, OX1 3PT, UK.
Frances M
FM
Ashcroft
Department of Paediatrics and Child Health, Cork University Hospital Cork, Ireland.
Stephen M P
SM
O'Riordan
Glibenclamide; K-ATP channel; in vitro; neonatal diabetes