{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T15:41:46Z","timestamp":1793029306354,"version":"4.5.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>CACNA1E<\/jats:italic> are associated with early\u2010onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early\u2010onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent <jats:italic>CACNA1E<\/jats:italic> variant p.(Gly352Arg) typically present with the combination of early\u2010onset DEE, dystonia\/dyskinesia, and contractures. We describe a 2\u2010year\u2010and\u201011\u2010month\u2010old girl carrying the p.(Gly352Arg) <jats:italic>CACNA1E<\/jats:italic> variant. She has a severe DEE with very frequent drug\u2010resistant seizures, profound hypotonia, and episodes of dystonia and dyskinesia. Long\u2010term video\u2010EEG\u2010monitoring documented subsequent tonic asymmetric seizures during wakefulness and mild paroxysmal dyskinesias of the trunk out of sleep which were thought to be a movement disorder and instead turned out to be focal hyperkinetic seizures. This is the first documented description of the EEG findings in this disorder. Our report highlights a possible overlap between cortical and subcortical phenomena in <jats:italic>CACNA1E<\/jats:italic>\u2010DEE. We also underline how a careful electro\u2010clinical evaluation might be necessary for a correct discernment between the two disorders, playing a fundamental role in the clinical assessment and proper management of children with <jats:italic>CACNA1E<\/jats:italic>\u2010DEE.<\/jats:p>","DOI":"10.1002\/epd2.20242","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T14:00:05Z","timestamp":1716472805000},"page":"520-526","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Seizure and movement disorder in <i>CACNA1E<\/i> developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?"],"prefix":"10.1002","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9011-7143","authenticated-orcid":false,"given":"Valentina","family":"Di\u00a0Micco","sequence":"first","affiliation":[{"name":"Department of Clinical Neurophysiology Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Epilepsy and Movement Disorders, Neurology Unit Bambino Ges\u00f9 Children's Hospital  Rome Italy"},{"name":"Member of the European Reference Network EpiCARE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Affronte","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Child Neuropsychiatry, IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne S\u00f8ndergaard","family":"Khinchi","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Danish Epilepsy Centre  Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gitte","family":"R\u00f8nde","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Herlev and Gentofte University Hospital, Copenhagen University  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jose","family":"Miranda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Herlev and Gentofte University Hospital, Copenhagen University  Copenhagen Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trine Bj\u00f8rg","family":"Hammer","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre  Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8120-0287","authenticated-orcid":false,"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Epilepsy and Movement Disorders, Neurology Unit Bambino Ges\u00f9 Children's Hospital  Rome Italy"},{"name":"Member of the European Reference Network EpiCARE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6035-6581","authenticated-orcid":false,"given":"S\u00e1ndor","family":"Beniczky","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Member of the European Reference Network EpiCARE"},{"name":"Department of Clinical Neurophysiology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kern","family":"Olofsson","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Danish Epilepsy Centre  Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9664-1448","authenticated-orcid":false,"given":"Rikke S.","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Member of the European Reference Network EpiCARE"},{"name":"Department of Epilepsy Genetics and 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