{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009150,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22H03047"],"award-info":[{"award-number":["22H03047"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012319","name":"National Center for Global Health and Medicine","doi-asserted-by":"publisher","award":["21A1011"],"award-info":[{"award-number":["21A1011"]}],"id":[{"id":"10.13039\/100012319","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012319","name":"National Center for Global Health and Medicine","doi-asserted-by":"publisher","award":["23A1014"],"award-info":[{"award-number":["23A1014"]}],"id":[{"id":"10.13039\/100012319","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Heterozygous pathogenic variants in\n                    <jats:italic>MBD5<\/jats:italic>\n                    (MIM*611472) and\n                    <jats:italic>CCM2<\/jats:italic>\n                    (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations\u20102 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super\u2010refractory status epilepticus, defined as seizures lasting more than 24\u2009h, has not been described in either condition. Herein, we describe the case of a 14\u2010year\u2010old boy with a neurodevelopmental disorder caused by a heterozygous\n                    <jats:italic>MBD5<\/jats:italic>\n                    deletion as well as multiple cerebral cavernous malformations caused by a\n                    <jats:italic>CCM2<\/jats:italic>\n                    deletion, who presented with prolonged super\u2010refractory status epilepticus. After 2\u2009months of status epilepticus that was refractory to several anticonvulsants and a ketogenic diet, the patient underwent a surgical corpus callosotomy, which controlled the seizures. Genetic analysis revealed\n                    <jats:italic>MBD5<\/jats:italic>\n                    and\n                    <jats:italic>CCM2<\/jats:italic>\n                    deletions. We hypothesize that the co\u2010occurrence of these two deletions in the patient interplayed synergistically, leading to a more severe clinical phenotype than those caused by either of the two independent conditions. We highlight the relevance of corpus callosotomy as a surgical option in severe cases of status epilepticus in which a brain focal resection is not feasible.\n                  <\/jats:p>","DOI":"10.1111\/cge.14685","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:15:34Z","timestamp":1736208934000},"page":"663-667","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Unique Case of\n                    <scp>\n                      <i>MBD5<\/i>\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>CCM2<\/i>\n                    <\/scp>\n                    Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1331-9470","authenticated-orcid":false,"given":"Sebasti\u00e1n","family":"Silva","sequence":"first","affiliation":[{"name":"Child Neurology Service Hospital de Puerto Montt  Puerto Montt Chile"},{"name":"Escuela de Medicina Universidad San Sebasti\u00e1n  Puerto Montt Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6224-2596","authenticated-orcid":false,"given":"Viviana","family":"Venegas","sequence":"additional","affiliation":[{"name":"Unit of Neuropediatrics, Advanced Center of Epilepsy Cl\u00ednica Alemana de Santiago  Santiago Chile"},{"name":"Unit of Neurophysiology Instituto de Neurocirug\u00eda Asenjo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Valenzuela","sequence":"additional","affiliation":[{"name":"Radiology Service Hospital de Puerto Montt  Puerto Montt Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"Retamales\u2010Moreno","sequence":"additional","affiliation":[{"name":"Unit of Infantile Neurology Hospital Henr\u00edquez Aravena de Temuco  Temuco Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Mu\u00f1oz\u2010Castro","sequence":"additional","affiliation":[{"name":"Unit of Infantile Neurology Hospital Guillermo Grant Benavente  Concepci\u00f3n Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hern\u00e1n","family":"Acevedo","sequence":"additional","affiliation":[{"name":"Unit of Neurosurgery Cl\u00ednica D\u00e1vila  Santiago Chile"},{"name":"Department of Pediatric Neurosurgery Instituto de Neurocirug\u00eda Asenjo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan\u2010Jos\u00e9","family":"Marengo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery Instituto de Neurocirug\u00eda Asenjo  Santiago Chile"},{"name":"Luis Calvo Mackenna Pediatric Hospital  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Okubo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Research Institute, National Center for Global Health and Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanami","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Research Institute, National Center for Global Health and Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0987-310X","authenticated-orcid":false,"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Research Institute, National Center for Global Health and Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abg6130"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.09.011"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.67"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.35"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/521274"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1918"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20947"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70053-4"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2013.42"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000579"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11929-2"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.08.003"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nec.2022.05.001"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12402"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2012.01.010"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13150"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx557"}],"container-title":["Clinical 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