title: Neonatal diabetes with intractable epilepsy: DEND syndrome.
abstract: Permanent Neonatal Diabetes Mellitus (PNDM), is a rare monogenic disorder, caused by activating mutations of the KATP channel. The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome.
authors.affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, B. J. Wadia Hospital for Children, Parel, Mumbai, India, poonam121@gmail.com.
authors.forename: Poonam
authors.initials: P
authors.lastname: Singh
authors.forename: Sudha Chandrashekhar
authors.initials: SC
authors.lastname: Rao
authors.forename: Ruchi
authors.initials: R
authors.lastname: Parikh
mesh_terms: D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000188:drug therapy; D000069279:Drug Resistant Epilepsy / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel