title: Mitochondrial diseases and epilepsy.
abstract: The mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus. This review summarizes our current understanding of the epilepsy that occurs in mitochondrial disease, focusing on three of the most common disorders: mitochondrial myopathy encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy and ragged-red fibers (MERRF), and polymerase gamma (POLG) related disease. In addition, we review the pathogenesis and possible treatment of these disorders.
authors.affiliation: Department of Neurology, Haukeland University Hospital, Bergen, Norway. laurence.bindoff@nevro.uib.no
authors.forename: Laurence A
authors.initials: LA
authors.lastname: Bindoff
authors.forename: Bernt A
authors.initials: BA
authors.lastname: Engelsen
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D004827:Epilepsy / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D017243:MERRF Syndrome / Q000473:pathology / Q000503:physiopathology; D008928:Mitochondria / Q000502:physiology; D028361:Mitochondrial Diseases / Q000150:complications* / Q000503:physiopathology / Q000628:therapy; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000473:pathology
chemical_list: D000927:Anticonvulsants