title: Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.
abstract: Activating mutations in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (KATP) channel is a cause of neonatal diabetes associated with various neurological disorders that include developmental delay, epilepsy, and neonatal diabetes (known together as DEND syndrome). This article reports a girl who developed infantile spasms and early onset diabetes mellitus at the age of 3 months and revealed DEND syndrome with a heterozygous activating mutation in Kir6.2. Infantile spasms with hypsarrhythmia on the electroencephalogram were severe and refractory to steroids. Steroids combined with oral sulfonylurea, a drug that closes the ATP-sensitive potassium channel by an independent mechanism, allowed partial and transitory control of the epilepsy. However, the child still exhibited severe encephalopathy and died of aspiration pneumonia. The role of oral sulfonylurea as an anticonvulsant in DEND syndrome associated with Kir6.2 mutation is discussed.
authors: Department of Paediatric Neurology and Metabolic Disease, Hôpital Necker Enfants Malades, Paris, France. nadia.bahi-buisson@nck.ap-hop-paris.fr
authors: Nadia
authors: N
authors: Bahi-Buisson
authors: Monica
authors: M
authors: Eisermann
authors: Sylvie
authors: S
authors: Nivot
authors: Christine
authors: C
authors: Bellanné-Chantelot
authors: Olivier
authors: O
authors: Dulac
authors: Nathalie
authors: N
authors: Bach
authors: Perrine
authors: P
authors: Plouin
authors: Catherine
authors: C
authors: Chiron
authors: Pascale
authors: P
authors: de Lonlay
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001923:Brain Chemistry / Q000235:genetics*; D001928:Brain Diseases, Metabolic / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D009154:Mutation / Q000235:genetics*; D011015:Pneumonia, Aspiration / Q000209:etiology; D026902:Potassium Channel Blockers / Q000627:therapeutic use; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D013256:Steroids / Q000627:therapeutic use; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D013577:Syndrome; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
chemical_list: D000927:Anticonvulsants; D007004:Hypoglycemic Agents; D026902:Potassium Channel Blockers; D024661:Potassium Channels, Inwardly Rectifying; D013256:Steroids; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel