{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:24:58Z","timestamp":1787761498673,"version":"build-2784847793"},"reference-count":26,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2011,11,22]],"date-time":"2011-11-22T00:00:00Z","timestamp":1321920000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p>The authors describe mitochondrial studies in a 6-year-old patient with a seizure disorder that can be seen in myoclonic epilepsy and ragged red fibers. Using a recently developed noninvasive approach, analysis of buccal mitochondrial enzyme function revealed severe respiratory complex I and IV deficiencies in the patient. In addition, analysis of buccal mitochondrial DNA showed significant amounts of the common 5 kb and 7.4 kb mitochondrial DNA deletions, also detectable in blood. This study suggests that a buccal swab approach can be used to informatively examine mitochondrial dysfunction in children with seizures and may be applicable to screening mitochondrial disease with other clinical presentations.<\/jats:p>","DOI":"10.1177\/0883073811420870","type":"journal-article","created":{"date-parts":[[2011,11,23]],"date-time":"2011-11-23T20:16:15Z","timestamp":1322079375000},"page":"398-401","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Buccal Swab Analysis of Mitochondrial Enzyme Deficiency and DNA Defects in a Child With Suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF)"],"prefix":"10.1177","volume":"27","author":[{"given":"William R.","family":"Yorns","sequence":"first","affiliation":[{"name":"Section of Neurology, Department of Pediatrics, St Christopher\u2019s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Valencia","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Pediatrics, St Christopher\u2019s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditya","family":"Jayaraman","sequence":"additional","affiliation":[{"name":"Mitochondrial Disease Laboratory, St Christopher\u2019s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudip","family":"Sheth","sequence":"additional","affiliation":[{"name":"Mitochondrial Disease Laboratory, St Christopher\u2019s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agustin","family":"Legido","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Pediatrics, St Christopher\u2019s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Goldenthal","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Pediatrics, St Christopher\u2019s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2011,11,22]]},"reference":[{"key":"bibr1-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.2.524"},{"key":"bibr2-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.5.1320"},{"key":"bibr3-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(95)00082-Q"},{"key":"bibr4-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(99)00038-7"},{"key":"bibr5-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1076737"},{"key":"bibr6-0883073811420870","first-page":"285","volume":"10","author":"Tabaku M","year":"1999","journal-title":"Genet Couns"},{"key":"bibr7-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700607"},{"key":"bibr8-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2008.10.009"},{"key":"bibr9-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809361165"},{"key":"bibr10-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.07.001"},{"key":"bibr11-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6363(95)00209-X"},{"key":"bibr12-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90218-8"},{"key":"bibr13-0883073811420870","first-page":"479","volume-title":"Handbook of Muscle Disease","volume":"1","author":"Hirano M","year":"1996"},{"key":"bibr14-0883073811420870","unstructured":"Goldenthal MJ, Kuruvilla T, Salganicoff L, Evaluation of mitochondrial defects in children. Abstract of the 39th National Meeting of the Child Neurology Society; October 13\u201316, 2010; Providence, RI"},{"key":"bibr15-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.10.1340"},{"key":"bibr16-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02504.x"},{"key":"bibr17-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2009.02.014"},{"key":"bibr18-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01522.x"},{"key":"bibr19-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2009.09.020"},{"key":"bibr20-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1007\/s10863-010-9314-7"},{"key":"bibr21-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809352888"},{"key":"bibr22-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1450541"},{"key":"bibr23-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21196"},{"key":"bibr24-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000154518.31302.ED"},{"key":"bibr25-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001127)95:3<266::AID-AJMG13>3.0.CO;2-0"},{"key":"bibr26-0883073811420870","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2010.04.003"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811420870","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073811420870","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811420870","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:32:05Z","timestamp":1777494725000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073811420870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,22]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1177\/0883073811420870"],"URL":"https:\/\/doi.org\/10.1177\/0883073811420870","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,22]]}}}