title: Neonatal Diabetes and the KATPChannel: From Mutation to Therapy.
abstract: Activating mutations in one of the two subunits of the ATP-sensitive potassium (KATP) channel cause neonatal diabetes (ND). This may be either transient or permanent and, in approximately 20% of patients, is associated with neurodevelopmental delay. In most patients, switching from insulin to oral sulfonylurea therapy improves glycemic control and ameliorates some of the neurological disabilities. Here, we review how KATPchannel mutations lead to the varied clinical phenotype, how sulfonylureas exert their therapeutic effects, and why their efficacy varies with individual mutations.
authors.affiliation: Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, OX1 3PT, UK. Electronic address: frances.ashcroft@dpag.ox.ac.uk.
authors.forename: Frances M
authors.initials: FM
authors.lastname: Ashcroft
authors.affiliation: Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, OX1 3PT, UK.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Puljung
authors.affiliation: Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, OX1 3PT, UK.
authors.forename: Natascia
authors.initials: N
authors.lastname: Vedovato
mesh_terms: D001786:Blood Glucose / Q000187:drug effects; D003920:Diabetes Mellitus / Q000097:blood / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D054086:KATP Channels / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D013453:Sulfonylurea Compounds / Q000627:therapeutic use
chemical_list: D001786:Blood Glucose; D007004:Hypoglycemic Agents; D054086:KATP Channels; D013453:Sulfonylurea Compounds