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A correct diagnosis also helps patients and their families to accept and understand the nature of their disease, even if incurable. Here, we discuss the phenotypes of these disorders and summarise the relevant specific investigations to identify the underlying cause.<\/jats:p>","DOI":"10.1136\/practneurol-2014-000994","type":"journal-article","created":{"date-parts":[[2015,2,26]],"date-time":"2015-02-26T22:38:59Z","timestamp":1424990339000},"page":"164-171","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":54,"title":["The progressive myoclonic epilepsies"],"prefix":"10.1136","volume":"15","author":[{"given":"Naveed","family":"Malek","sequence":"first","affiliation":[{"name":"Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Stewart","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Greene","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2015,2,26]]},"reference":[{"key":"2025090411112878000_15.3.164.1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2011-000107"},{"key":"2025090411112878000_15.3.164.2","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1212\/WNL.0000000000000091","article-title":"Progressive myoclonic epilepsies: It takes a village to make a diagnosis","volume":"82","author":"Knupp","year":"2014","journal-title":"Neurology"},{"key":"2025090411112878000_15.3.164.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt459"},{"key":"2025090411112878000_15.3.164.4","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1016\/j.jcyt.2013.06.008","article-title":"Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery","volume":"15","author":"Chang","year":"2013","journal-title":"Cytotherapy"},{"key":"2025090411112878000_15.3.164.5","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/mt.2013.267","article-title":"Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a peptide that mediates delivery to the brain","volume":"22","author":"Meng","year":"2014","journal-title":"Mol Ther"},{"key":"2025090411112878000_15.3.164.6","doi-asserted-by":"publisher","DOI":"10.1177\/1060028013500469"},{"key":"2025090411112878000_15.3.164.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01546.x"},{"key":"2025090411112878000_15.3.164.8","unstructured":"Lehesjoki AE , Kalviainen R . 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