{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T04:53:57Z","timestamp":1787201637996,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Project Ricerca Finalizzata Giovani Ricercatori\/ G"],"award-info":[{"award-number":["Project Ricerca Finalizzata Giovani Ricercatori\/ G"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Project Ricerca Finalizzata\/ RF\u20102019\u2010J45F210000500"],"award-info":[{"award-number":["Project Ricerca Finalizzata\/ RF\u20102019\u2010J45F210000500"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RRC"],"award-info":[{"award-number":["RRC"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variants of <jats:italic>SEMA6B<\/jats:italic> have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with truncating mutations causing the production of aberrant proteins with toxic gain of function. Herein, we describe three adjunctive patients carrying de novo truncating <jats:italic>SEMA6B<\/jats:italic> variants in this exon (c.1976delC and c.2086C\u2009&gt;\u2009T novel; c.1978delC previously reported). These subjects presented with PME preceded by developmental delay, motor and cognitive impairment, worsening myoclonus, and epilepsy with polymorphic features, including focal to bilateral seizures in two, and non\u2010convulsive status epilepticus in one. The evidence of developmental delay in these cases suggests their inclusion in the \u201cPME plus developmental delay\u201d nosological group. This work further expands our knowledge of <jats:italic>SEMA6B<\/jats:italic> variants causing PMEs. However, the data to date available confirms that phenotypic features do not correlate with the type or location of variants, aspects that need to be further clarified by future studies.<\/jats:p>","DOI":"10.1002\/epi4.12697","type":"journal-article","created":{"date-parts":[[2023,1,31]],"date-time":"2023-01-31T13:25:52Z","timestamp":1675171552000},"page":"645-650","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Progressive myoclonus epilepsies due to <i>SEMA6B<\/i> mutations. New variants and appraisal of published phenotypes"],"prefix":"10.1002","volume":"8","author":[{"given":"Barbara","family":"Castellotti","sequence":"first","affiliation":[{"name":"Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta  Milano 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":"Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2293-8687","authenticated-orcid":false,"given":"Elena","family":"Freri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3397-6996","authenticated-orcid":false,"given":"Maria","family":"Tappat\u00e0","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center, Unit of Neurology Bellaria Hospital  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliana","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Magri","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4102-1188","authenticated-orcid":false,"given":"Jacopo C.","family":"DiFrancesco","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"},{"name":"Department of Neurology, Fondazione IRCCS San Gerardo dei Tintori University of Milano\u2010Bicocca  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Fanella","sequence":"additional","affiliation":[{"name":"Department of Neurology Fabrizio Spaziani Hospital  Frosinone Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1890-5409","authenticated-orcid":false,"given":"Carlo","family":"Di\u00a0Bonaventura","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences Policlinico Umberto I, Sapienza University of Rome  Rome 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[{"name":"Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9655-7940","authenticated-orcid":false,"given":"Roberto","family":"Michelucci","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center, Unit of Neurology Bellaria Hospital  Bologna 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