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As the MRC is the result of genetic complementation between two separate genomes, nuclear and mitochondrial, OXPHOS failure can derive from mutations in either nuclear\u2010encoded, or mitochondrial\u2010encoded, genes. Epilepsy is a relatively common feature of mitochondrial disease, especially in early\u2010onset encephalopathies of infants and children. However, the two most common entities associated with epilepsy include MERRF, for Myoclonic Epilepsy with Ragged Red Fibers, and AHS, or Alpers\u2010Huttenlocher syndrome, also known as hepatopathic poliodystrophy. Whilst MERRF is a maternally inherited condition caused by mtDNA mutations, particularly the 8344A&gt;G substitution in the gene encoding mt\u2010tRNA<jats:sup>Lys<\/jats:sup>, AHS is typically caused by recessive mutations in <jats:italic>POLG<\/jats:italic>, encoding the catalytic subunit of polymerase gamma, the only mtDNA polymerase in humans. AHS is the most severe, early\u2010onset, invariably fatal syndrome within a disease spectrum, which also include other epileptogenic entities, all due to <jats:italic>POLG<\/jats:italic> mutations and including Spino\u2010cerebellar Ataxia and Epilepsy (SCAE). This review reports the main clinical, neuroimaging, biochemical, and molecular features of epilepsy\u2010related mitochondrial syndrome, particularly MERRF and AHS.<\/jats:p>","DOI":"10.1684\/epd.2016.0846","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":24,"title":["Myoclonus epilepsy in mitochondrial disorders"],"prefix":"10.1002","volume":"18","author":[{"given":"Costanza","family":"Lamperti","sequence":"first","affiliation":[{"name":"Unit of Molecular Neurogenetics, The Carlo Besta Institute of Neurology  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[{"name":"MRC\u2010Mitochondrial Biology Unit, Cambridge  United 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