{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:54:06Z","timestamp":1787237646323,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T00:00:00Z","timestamp":1553644800000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Dynamin\u20101\u2010like protein (\n                    <jats:italic>DNM1L<\/jats:italic>\n                    ) gene variants have been linked to childhood refractory epilepsy, developmental delay, encephalopathy, microcephaly, and progressive diffuse cerebral atrophy. However, only a few cases have been reported in the literature and there is still a limited amount of information about the symptomatology and pathophysiology associated with pathogenic variants of\n                    <jats:italic>DNM1L<\/jats:italic>\n                    . We report a 10\u2010year\u2010old girl with a one\u2010year history of mild learning disorder and absence seizures who presented with new\u2010onset focal status epilepticus which progressed to severe encephalopathy and asymmetric hemispheric cerebral atrophy. Differential diagnosis included mitochondrial disease, Rasmussen's encephalitis, and autoimmune encephalitis. Disease progressed from one hemisphere to the other despite anti\u2010seizure medications, hemispherectomy, vagus nerve stimulator, ketogenic diet, and immunomodulators. Continued cerebral atrophy and refractory seizures evolved until death four years after initial presentation. Post\u2010mortem whole\u2010exome sequencing revealed a pathogenic\n                    <jats:italic>DNM1L<\/jats:italic>\n                    variant. This paper presents a novel case of adolescent\u2010onset\n                    <jats:italic>DNM1L<\/jats:italic>\n                    \u2010related intractable epilepsy and encephalopathy.\n                  <\/jats:p>","DOI":"10.1684\/epd.2019.1036","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T11:29:54Z","timestamp":1706009394000},"page":"112-116","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the\n                    <i>DNM1L<\/i>\n                    \u2010associated intractable epilepsy and encephalopathy phenotype"],"prefix":"10.1002","volume":"21","author":[{"given":"Danielle A.","family":"Nolan","sequence":"first","affiliation":[{"name":"Department of Pediatric Epilepsy Beaumont Health Royal Oak MI 48073"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baibing","family":"Chen","sequence":"additional","affiliation":[{"name":"Oakland University William Beaumont School of Medicine Rochester MI 48309 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Marie","family":"Michon","sequence":"additional","affiliation":[{"name":"Department of Pediatric Epilepsy Beaumont Health Royal Oak MI 48073"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Salatka","sequence":"additional","affiliation":[{"name":"Department of Pediatric Epilepsy Beaumont Health Royal Oak MI 48073"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Arndt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Epilepsy Beaumont Health Royal Oak MI 48073"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,27]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1215233"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw059"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37721"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7007-12-35"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23033"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37624"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.243"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa064436"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.12.060"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2019.1036","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T12:06:29Z","timestamp":1710763589000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2019.1036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1684\/epd.2019.1036"],"URL":"https:\/\/doi.org\/10.1684\/epd.2019.1036","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"2018-11-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}