{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T08:24:11Z","timestamp":1773735851136,"version":"3.50.1"},"reference-count":21,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JPMH23FC0201"],"award-info":[{"award-number":["JPMH23FC0201"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP24K02230"],"award-info":[{"award-number":["JP24K02230"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP23K27566"],"award-info":[{"award-number":["JP23K27566"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP24K11055"],"award-info":[{"award-number":["JP24K11055"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP25ek0109760"],"award-info":[{"award-number":["JP25ek0109760"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP25ek0109677"],"award-info":[{"award-number":["JP25ek0109677"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP25ek0109674"],"award-info":[{"award-number":["JP25ek0109674"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP24ek0109591"],"award-info":[{"award-number":["JP24ek0109591"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP25ek0109648"],"award-info":[{"award-number":["JP25ek0109648"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP25ek0109617"],"award-info":[{"award-number":["JP25ek0109617"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.braindev.2025.104478","type":"journal-article","created":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T22:04:30Z","timestamp":1760825070000},"page":"104478","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series"],"prefix":"10.1016","volume":"47","author":[{"given":"Yu","family":"Kobayashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Sakuma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emiko","family":"Morimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitomi","family":"Fujii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kei","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moemi","family":"Hojo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Miura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuyuki","family":"Miya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2025.104478_bb0005","doi-asserted-by":"crossref","first-page":"18582","DOI":"10.1074\/jbc.R116.739490","article-title":"cis-Prenyltransferase: new insights into protein glycosylation, rubber synthesis, and human diseases","volume":"291","author":"Grabinska","year":"2016","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2025.104478_bb0010","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1016\/j.ajhg.2021.03.013","article-title":"Progressive myoclonus epilepsies\u2014residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes","volume":"108","author":"Courage","year":"2021","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2025.104478_bb0015","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1093\/brain\/awab299","article-title":"De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus","volume":"145","author":"Galosi","year":"2022","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2025.104478_bb0020","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ajhg.2011.01.002","article-title":"A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews","volume":"88","author":"Zelinger","year":"2011","journal-title":"Am J Human Genet"},{"key":"10.1016\/j.braindev.2025.104478_bb0025","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ajhg.2017.09.008","article-title":"High rate of recurrent de novo mutations in developmental and epileptic encephalopathies","volume":"101","author":"Hamdan","year":"2017","journal-title":"Am J Human Genet"},{"key":"10.1016\/j.braindev.2025.104478_bb0030","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1111\/epi.13671","article-title":"Instruction manual for the ILAE 2017 operational classification of seizure types","volume":"58","author":"Fisher","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104478_bb0035","doi-asserted-by":"crossref","first-page":"15199","DOI":"10.1038\/srep15199","article-title":"De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing","volume":"5","author":"Saitsu","year":"2015","journal-title":"Sci Rep"},{"key":"10.1016\/j.braindev.2025.104478_bb0040","doi-asserted-by":"crossref","first-page":"19741","DOI":"10.1038\/s41598-024-70831-7","article-title":"Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis","volume":"14","author":"Watanabe","year":"2024","journal-title":"Sci Rep"},{"key":"10.1016\/j.braindev.2025.104478_bb0045","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.seizure.2021.06.013","article-title":"DHDDS related epilepsy\u2013\u2013report of familial cases and review of the literature","volume":"91","author":"Wood","year":"2021","journal-title":"Seizure"},{"key":"10.1016\/j.braindev.2025.104478_bb0050","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/dmcn.14976","article-title":"Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase","volume":"64","author":"Jiao","year":"2022","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2025.104478_bb0055","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1055\/s-0040-1713159","article-title":"Complex neurological phenotype associated with a de novo DHDDS mutation in a boy with intellectual disability, refractory epilepsy, and movement disorder","volume":"10","author":"Piccolo","year":"2021","journal-title":"J Pediatr Genet"},{"key":"10.1016\/j.braindev.2025.104478_bb0060","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/j.braindev.2020.06.011","article-title":"Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy","volume":"42","author":"Togashi","year":"2020","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2025.104478_bb0065","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1002\/epi4.12350","article-title":"Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania","volume":"4","author":"Ware","year":"2019","journal-title":"Epilepsia Open"},{"key":"10.1016\/j.braindev.2025.104478_bb0070","doi-asserted-by":"crossref","first-page":"1208540","DOI":"10.3389\/fgene.2023.1208540","article-title":"Case report: identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus","volume":"14","author":"Dong","year":"2023","journal-title":"Front Genet"},{"key":"10.1016\/j.braindev.2025.104478_bb0075","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1002\/acn3.51483","article-title":"Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS","volume":"8","author":"Kim","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.braindev.2025.104478_bb0080","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1111\/epi.17241","article-title":"International league against epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE task force on nosology and definitions","volume":"63","author":"Specchio","year":"2022","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104478_bb0085","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1111\/epi.17859","article-title":"Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing","volume":"65","author":"Coppola","year":"2024","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104478_bb0090","doi-asserted-by":"crossref","first-page":"e96","DOI":"10.1212\/WNL.0000000000006729","article-title":"SYNGAP1 encephalopathy. A distinctive generalized developmental and epileptic encephalopathy","volume":"92","author":"Vlaskamp","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2025.104478_bb0095","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/s41436-020-00988-9","article-title":"NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns","volume":"23","author":"Stamberger","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104478_bb0100","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1111\/epi.18020","article-title":"Comprehensive scoping review of fenfluramine\u2019s role in managing generalized tonic\u2013clonic seizures in developmental and epileptic encephalopathies","volume":"65","author":"Gil-Nagel","year":"2024","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2025.104478_bb0105","doi-asserted-by":"crossref","first-page":"S145","DOI":"10.1684\/epd.2016.0861","article-title":"Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials","volume":"18","author":"Michelucci","year":"2016","journal-title":"Epileptic Disord"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425001603?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425001603?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T00:43:31Z","timestamp":1764895411000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760425001603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["S0387760425001603"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104478","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104478","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Japanese Society of Child Neurology. Elsevier B.V. CC BY 4.0","name":"copyright","label":"Copyright"}],"article-number":"104478"}}