{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T04:16:38Z","timestamp":1791951398813,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,11,27]],"date-time":"2021-11-27T00:00:00Z","timestamp":1637971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003669","name":"Korea Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["2020\u2010ER6904\u201001"],"award-info":[{"award-number":["2020\u2010ER6904\u201001"]}],"id":[{"id":"10.13039\/501100003669","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused by a novel <jats:italic>DHDDS<\/jats:italic> variant. Additionally, by reviewing the literature on <jats:italic>DHDDS<\/jats:italic> mutations, we compared the phenotype of our patient with previously reported phenotypes. We identified <jats:italic>DHDDS (c.638G&gt;A, p<\/jats:italic>. <jats:italic>Ser213Asn)<\/jats:italic> as a likely pathogenic variant. The literature review revealed 15 PME patients with <jats:italic>DHDDS<\/jats:italic> mutations from 13 unrelated families. According to previous studies, late\u2010onset patients tend to have a slow\u2010progressive disease course. Although his myoclonus and ataxia were adult onset, our patient experienced rapid disease aggravation.<\/jats:p>","DOI":"10.1002\/acn3.51483","type":"journal-article","created":{"date-parts":[[2021,11,27]],"date-time":"2021-11-27T08:10:08Z","timestamp":1638000608000},"page":"2319-2326","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Adult\u2010onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS"],"prefix":"10.1002","volume":"8","author":[{"given":"Seondeuk","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Neurology Seoul National University Hospital Seoul South Korea"},{"name":"Laboratory for Neurotherapeutics Seoul National University Hospital Seoul National University College of Medicine Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Man Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Rare Disease 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