title: Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation.
abstract: Mutations in KCNJ11 cause majority of cases of permanent neonatal diabetes (PND). Multiple reports of PND with successful transitioning to oral sulfonylurea had been reported except for those with DEND syndrome. This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome.
authors: Boonshoft School of Medicine, Wright State University, United States; Pediatric Endocrinologist Dayton Children's Hospital, One Children's Plaza, Dayton, OH 45404, United States. Electronic address: almazans@childrensdayton.org.
authors: Susan
authors: S
authors: Peña-Almazan
mesh_terms: D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics* / Q000378:metabolism; D012640:Seizures / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D013577:Syndrome; D000099161:Kcnj11 Channel
chemical_list: D004247:DNA; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel
keywords: DEND syndrome; KCNJ11 gene; Permanent neonatal diabetes; Sulfonylurea (glyburide) therapy