title: Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua.
abstract: Epilepsia partialis continua (EPC) has previously been reported in only two patients with Leigh syndrome (LS). We report here a subject in whom LS and partial deficit of cytochrome c oxidase (COX) were associated with EPC. Epilepsy in this subject appeared when neurologic impairment was clearly evident and MRI showed cortical lesions typically associated with congenital lactic acidosis.
authors.affiliation: Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina (EN), Italy.
authors.forename: M
authors.initials: M
authors.lastname: Elia
authors.forename: S A
authors.initials: SA
authors.lastname: Musumeci
authors.forename: R
authors.initials: R
authors.lastname: Ferri
authors.forename: V
authors.initials: V
authors.lastname: Colamaria
authors.forename: G
authors.initials: G
authors.lastname: Azan
authors.forename: D
authors.initials: D
authors.lastname: Greco
authors.forename: M C
authors.initials: MC
authors.lastname: Stefanini
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications / Q000151:congenital; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D004569:Electroencephalography; D017036:Epilepsia Partialis Continua / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007888:Leigh Disease / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology*; D008279:Magnetic Resonance Imaging; D008297:Male; D012867:Skin / Q000166:cytology