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Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in all 37 mitochondrially encoded genes and more than 80 nuclear genes. The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke\u2010like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in <jats:italic>POLG<\/jats:italic> (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q<jats:sub>10<\/jats:sub> biosynthesis; and disorders of mitochondrial translation such as <jats:italic>RARS2<\/jats:italic> mutations. It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature of mitochondrial disease but is often part of a multisystem clinical presentation. Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative treatments for mitochondrial disease. Individuals with mitochondrial epilepsy are frequently prescribed multiple anticonvulsants, and the role of vitamins and other nutritional supplements and the ketogenic diet remain unproven.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.04214.x","type":"journal-article","created":{"date-parts":[[2012,1,28]],"date-time":"2012-01-28T07:19:35Z","timestamp":1327735175000},"page":"397-406","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":170,"title":["Mitochondrial disease and 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