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A case of Ohtahara syndrome with cytochrome oxidase deficiency
Author(s) -
Williams AN,
Gray RG,
MPhil K Poulton,
MRCPath P Ramani,
Whitehouse W P A
Publication year - 1998
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1998.tb15416.x
Subject(s) - epilepsy , pediatrics , medicine , west syndrome , cytochrome c oxidase , rett syndrome , psychiatry , biology , genetics , mitochondrion , gene
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.