{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T21:41:44Z","timestamp":1788385304537,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["SG\u20102018\u201012368345"],"award-info":[{"award-number":["SG\u20102018\u201012368345"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1196637"],"award-info":[{"award-number":["APP1196637"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The progressive myoclonus epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of patients with PME, and genome\u2010wide molecular studies on remaining, well\u2010selected, undiagnosed cases can further dissect the underlying genetic heterogeneity. Through whole\u2010exome sequencing (WES), we identified pathogenic truncating variants in the <jats:italic>IRF2BPL<\/jats:italic> gene in two, unrelated patients presenting with PME. <jats:italic>IRF2BPL<\/jats:italic> belongs to the transcriptional regulators family and it is expressed in multiple human tissues, including the brain. Recently missense and nonsense mutations in <jats:italic>IRF2BPL<\/jats:italic> were found in patients presenting with developmental delay and epileptic encephalopathy, ataxia, and movement disorders, but none with clear PME. We identified 13 other patients in the literature with myoclonic seizures and <jats:italic>IRF2BPL<\/jats:italic> variants. There was no clear genotype\u2013phenotype correlation. With the description of these cases, the <jats:italic>IRF2BPL<\/jats:italic> gene should be considered in the list of genes to be tested in the presence of PME, in addition to patients with neurodevelopmental or movement disorders.<\/jats:p>","DOI":"10.1111\/epi.17557","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T04:20:08Z","timestamp":1677039608000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>IRF2BPL<\/i>: A new genotype for progressive myoclonus epilepsies"],"prefix":"10.1111","volume":"64","author":[{"given":"Cinzia","family":"Costa","sequence":"first","affiliation":[{"name":"Neurology Clinic, Department of Medicine and Surgery University of Perugia\u2010S. Maria Della Misericordia Hospital  Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5188-6153","authenticated-orcid":false,"given":"Karen L.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Department of Medicine (Austin Health), Epilepsy Research Centre University of Melbourne  Heidelberg Victoria Australia"},{"name":"Population Health and Immunity Division Walter and Eliza Hall Institute of Medical Research  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Calvello","sequence":"additional","affiliation":[{"name":"Neurology Clinic, Department of Medicine and Surgery University of Perugia\u2010S. Maria Della Misericordia Hospital  Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian M.","family":"Cameron","sequence":"additional","affiliation":[{"name":"Department of Medicine (Austin Health), Epilepsy Research Centre University of Melbourne  Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Imperatore","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal\u2010Infantile Department S. Maria della Misericordia Hospital  Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Tonelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Medical Sciences University of Ferrara  Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Colavito","sequence":"additional","affiliation":[{"name":"R&amp;I Genetics SRL  Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5385-761X","authenticated-orcid":false,"given":"Laura","family":"Canafoglia","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Department of Medicine (Austin Health), Epilepsy Research Centre University of Melbourne  Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4960-9223","authenticated-orcid":false,"given":"Paolo","family":"Prontera","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Maternal\u2010Infantile Department S. 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