{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T13:10:09Z","timestamp":1745759409473,"version":"3.40.4"},"reference-count":23,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,2,10]]},"abstract":"<jats:p>A 26-year-old man presented to the emergency department with new-onset generalised tonic\u2013clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2016-218133","type":"journal-article","created":{"date-parts":[[2017,2,27]],"date-time":"2017-02-27T15:15:21Z","timestamp":1488208521000},"page":"bcr2016218133","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)"],"prefix":"10.1136","volume":"2017","author":[{"given":"Jasna","family":"David","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie Omolola","family":"Okiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwa","family":"Elamin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,2,27]]},"reference":[{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24362"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.2","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1001\/jamaneurol.2015.5061","article-title":"Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes presenting before 50 years of age: when a stroke is not just a stroke","volume":"73","author":"Marques-Matos","year":"2016","journal-title":"JAMA Neurol"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.3","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-303528"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.4","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1590\/0004-282X20150154","article-title":"When should MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) be the diagnosis?","volume":"73","author":"Lorenzoni","year":"2015","journal-title":"Arq Neuropsiquiatr"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.5","unstructured":"Jasinska D , Boczon J . MELAS: a tricky disease with an easy diagnostic test. Pract Neurol 2014:26\u20137. http:\/\/practicalneurology.com\/pdfs\/pn1012_CF_MELAS.pdf (accessed 22 May 2016)."},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.6","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(92)90045-8"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.7","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.158279"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.8","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.ncl.2015.08.011","article-title":"Neuropsychiatric features in primary mitochondrial disease","volume":"34","author":"Marin","year":"2016","journal-title":"Neurology Clinics"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.9","doi-asserted-by":"publisher","DOI":"10.1136\/postgradmedj-2011-130326"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.10","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.4103\/0366-6999.159360","article-title":"Progress in diagnosing mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes","volume":"128","author":"Wang","year":"2015","journal-title":"Chin Med J"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.11","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2007.67"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.12","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S1875-9572(08)60030-3","article-title":"Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy","volume":"49","author":"Wang","year":"2008","journal-title":"Pediatric Neonatology"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.13","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201735"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03907.x"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.15","doi-asserted-by":"publisher","DOI":"10.3109\/07853890.2011.605389"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.16","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ddrr.115","article-title":"The role of mitochondrial dysfunction in psychiatric disease","volume":"16","author":"Scaglia","year":"2010","journal-title":"Developmental Disabilities Research Reviews"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.17","doi-asserted-by":"publisher","DOI":"10.1176\/appi.neuropsych.11110345"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.18","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1017\/S1092852900015303","article-title":"Psychiatric comorbidity in 36 adults with mitochondrial cytopathies","volume":"12","author":"Fattal","year":"2007","journal-title":"CNS Spectr"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0003815"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.20","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812460580"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.21","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0116-1"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.22","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.188"},{"key":"2025042705303441000_2017.feb27_1.bcr2016218133.23","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10687"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-218133","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T12:30:46Z","timestamp":1745757046000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-218133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,27]]},"references-count":23,"alternative-id":["10.1136\/bcr-2016-218133"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-218133","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2017,2,27]]}}}