{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T06:51:54Z","timestamp":1761807114282},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2199,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epilepsia partialis continua (EPC) is a rare epileptic syndrome characterized by continuous focal seizures. We report on a 16\u2010year\u2010old girl who died of prolonged pharmacoresistant EPC in whom we identified a 7472insC mutation within the mitochondrial transfer ribonucleic acid (tRNA)<jats:sup>Ser(UCN)<\/jats:sup>. Additional symptoms included ataxia, lactic acidosis, myopathy, sensorineural hearing loss, severe headaches, and mental retardation. Quantification revealed 100% mutant mitochondrial DNA (mtDNA) in the patient, 4% in her mother, and none in her half\u2010sister. This highly skewed mtDNA distribution is most improbable (\u223c3 \u00d7 10<jats:sup>\u221230<\/jats:sup>) if only explained by random genetic drift. Clustering of dysfunctional mitochondria and replicatory advantage of mutant mtDNA may play a role in the rapid segregation towards homoplasmy within one generation.<\/jats:p>","DOI":"10.1002\/ana.410440420","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:37:16Z","timestamp":1104597436000},"page":"700-704","source":"Crossref","is-referenced-by-count":45,"title":["Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA<sup>Ser(UCN)<\/sup> mutation"],"prefix":"10.1002","volume":"44","author":[{"given":"Markus","family":"Schuelke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melan","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisela","family":"Stoltenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Sperner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arpad","family":"von Moers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1111\/j.1528-1167.1993.tb06256.x","article-title":"Progressive myoclonus epilepsies, clinical and genetic aspects","volume":"34","author":"Berkovic SF","year":"1993","journal-title":"Epilepsia"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_1_4_2","first-page":"1213","article-title":"A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged\u2010red fibers (MERRF)","volume":"51","author":"Silvestri G","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199602)19:2<187::AID-MUS10>3.0.CO;2-S"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.2260"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1421"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00002281-199411000-00003"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-226"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-4388(96)80100-0"},{"key":"e_1_2_1_11_2","first-page":"39","volume-title":"Mathematische Statistik in der Wissenschaft","author":"Smirnow NW","year":"1973"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-146"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(94)00267-R"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(95)00126-3"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380030311"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.24.2.304"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-47"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005357506614"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00763101"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.23.11164"},{"key":"e_1_2_1_21_2","first-page":"373","article-title":"A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle","volume":"60","author":"Weber K","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/12.8.1756"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410440420","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410440420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T14:22:38Z","timestamp":1698502958000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410440420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1002\/ana.410440420"],"URL":"https:\/\/doi.org\/10.1002\/ana.410440420","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}