{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:17:33Z","timestamp":1787242653580,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T00:00:00Z","timestamp":1644883200000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["# RC2020 2021"],"award-info":[{"award-number":["# RC2020 2021"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dynamin\u20101\u2010like (\n                    <jats:italic>DNM1L<\/jats:italic>\n                    ) is a gene located on chromosome 12p11.21 that encodes for dynamin\u2010related protein (DRP1), a GTPase involved in mitochondrial and peroxisomal fusion, which plays a pivotal role in brain development. The missense variant, p.Arg403Cys, is clinically associated with childhood\u2010onset super\u2010refractory status epilepticus, with either subsequent poor neurological outcome or death (described in 13 patients). We present a 20\u2010year\u2010old girl carrying this mutation with a history of two episodes of super\u2010refractory focal myoclonic status epilepticus which manifested as epilepsia partialis continua (EPC) with a 13\u2010year interval, during which she displayed moderate intellectual disability, social and school reintegration, without complete control of myoclonic manifestations. The first status, which occurred at the age of six, was associated with transient left side thalamic involvement and the second episode with right side transient basal ganglia hyperintensity on MRI. After the second status, a persistent vegetative state with both drug\u2010resistant epilepsia partialis continua and reticular myoclonus endured; the MRI showed progressive brain atrophy. In contrast to previous published cases, this new case of childhood\u2010onset\n                    <jats:italic>DNM1L<\/jats:italic>\n                    encephalopathy demonstrated biphasic clinical progression. The main features of our patient were EPC, super\u2010refractory status epilepticus, and transient and migrating subcortical thalamic hyperintensity on MRI at onset. The unusual clinical course is also noticeable, indicating possible epigenetic and\/or protective factors, without underestimating the progressive and genetic basis of this encephalopathy. Precise characterization of seizures and whole\u2010exome sequencing are crucial in order to establish early diagnosis.\n                  <\/jats:p>","DOI":"10.1684\/epd.2021.1375","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T06:53:42Z","timestamp":1643957622000},"page":"176-182","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Epilepsia partialis continua associated with the p.Arg403Cys variant of the\n                    <i>DNM1L<\/i>\n                    gene: an unusual clinical progression with two episodes of super\u2010refractory status epilepticus with a 13\u2010year remission interval"],"prefix":"10.1002","volume":"24","author":[{"given":"Sara","family":"Minghetti","sequence":"first","affiliation":[{"name":"Scientific Institute IRCCS E. Medea  Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giorda","sequence":"additional","affiliation":[{"name":"Scientific Institute IRCCS E. Medea  Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Mastrangelo","sequence":"additional","affiliation":[{"name":"Child Neurology Unit V. Buzzi Children's Hospital  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Tassi","sequence":"additional","affiliation":[{"name":"\u201cClaudio Munari\u201d Epilepsy Surgery Center Niguarda Hospital  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoletta","family":"Zanotta","sequence":"additional","affiliation":[{"name":"Scientific Institute IRCCS E. Medea  Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Galbiati","sequence":"additional","affiliation":[{"name":"Scientific Institute IRCCS E. Medea  Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Bassi","sequence":"additional","affiliation":[{"name":"Scientific Institute IRCCS E. Medea  Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Zucca","sequence":"additional","affiliation":[{"name":"Scientific Institute IRCCS E. Medea  Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200903065"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa064436"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37721"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000258"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.01.015"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2019.1036"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073818778203"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1685217"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.12.017"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23729"},{"issue":"59","key":"e_1_2_7_12_1","first-page":"400","article-title":"gene variant caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1: three cases report and literature review","volume":"2","author":"Pan Z.","year":"2021","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_2_7_13_1","first-page":"4724","article-title":"Entropy analysis on EEG signal in a case study of focal myoclonus","volume":"2008","author":"Molteni E.","year":"2008","journal-title":"Annu Int Conf IEEE Eng Med Biol Soc"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-52891-9.00069-5"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2016.10.010"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.2174\/1381612823666170809114654"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2021.1375","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T03:32:57Z","timestamp":1713583977000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2021.1375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1684\/epd.2021.1375"],"URL":"https:\/\/doi.org\/10.1684\/epd.2021.1375","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2]]},"assertion":[{"value":"2021-03-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}