A case of Ohtahara syndrome with cytochrome oxidase deficiency.
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.
Williams
A N
AN
Birmingham Children's Hospital, UK.
Gray
R G
RG
Poulton
K
K
Ramani
P
P
Whitehouse
W P
WP
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
D003576:Electron Transport Complex IV