title: A case of Ohtahara syndrome with cytochrome oxidase deficiency.
abstract: Ohtahara syndrome is a rare cause of epileptic seizures during the neonatal period. This is believed to be the first report of this syndrome with a specific metabolic defect. Defects in respiratory chain function may be more common than previously assumed in patients with this epilepsy syndrome.
authors.affiliation: Birmingham Children's Hospital, UK.
authors.forename: A N
authors.initials: AN
authors.lastname: Williams
authors.forename: R G
authors.initials: RG
authors.lastname: Gray
authors.forename: K
authors.initials: K
authors.lastname: Poulton
authors.forename: P
authors.initials: P
authors.lastname: Ramani
authors.forename: W P
authors.initials: WP
authors.lastname: Whitehouse
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency; D004569:Electroencephalography; D004579:Electron Transport / Q000502:physiology; D003576:Electron Transport Complex IV / Q000378:metabolism*; D004827:Epilepsy / Q000175:diagnosis / Q000201:enzymology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome
chemical_list: D003576:Electron Transport Complex IV