{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T02:00:05Z","timestamp":1792116005814,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T00:00:00Z","timestamp":1641513600000},"content-version":"vor","delay-in-days":37,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Objective<\/jats:italic>. Coffin\u2010Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the <jats:italic>ARID1B<\/jats:italic> gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evaluation of the epileptic phenotype in patients with <jats:italic>ARID1B<\/jats:italic> alterations and CSS has not been approached yet. We report seven patients with <jats:italic>ARID1B<\/jats:italic>\u2010related CSS, focusing on epilepsy and its electroclinical features.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. The evolution of epilepsy and EEG findings of children with CSS are described and compared with patients previously reported in the literature.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. The patients described here reveal common features, consistent with those of patients previously described in the literature.<\/jats:p><jats:p><jats:italic>Significance<\/jats:italic>. The epilepsy phenotype of CSS due to <jats:italic>ARID1B<\/jats:italic> pathogenic variants may be described as focal epilepsy with seizures, variable in frequency, arising from motor areas, with onset in the first years of life and susceptibility to fever, and interictal perisylvian (centrotemporal) epileptiform abnormalities that are enhanced during sleep with possible evolution to an EEG pattern of continuous spike and wave during sleep (without documented developmental regression). Additional information emerging from other patients is needed to confirm this definition.<\/jats:p>","DOI":"10.1684\/epd.2021.1356","type":"journal-article","created":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T06:52:20Z","timestamp":1640155940000},"page":"865-874","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Epilepsy features in <i>ARID1B<\/i>\u2010related Coffin\u2010Siris syndrome"],"prefix":"10.1002","volume":"23","author":[{"given":"Jacopo","family":"Proietti","sequence":"first","affiliation":[{"name":"U.O.C. di Neuropsichiatria Infantile Dipartimento ad Attivit\u00e0 Integrata Materno Infantile \u2013 AOUI di Verona  Verona Italy"},{"name":"PhD program Applied Sciences of Life and Health University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Amadori","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscolar Diseases Unit IRCCS \u201cG. Gaslini\u201d Insitute  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscolar Diseases Unit IRCCS \u201cG. Gaslini\u201d Insitute  Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health University of Genova  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Ricci","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna UO Neuropsichiatria dell'et\u00e0 Pediatrica  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duccio Maria","family":"Cordelli","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna UO Neuropsichiatria dell'et\u00e0 Pediatrica  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Bana","sequence":"additional","affiliation":[{"name":"UOC Neurofisiopatologia Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milano 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Barco","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona  Verona Italy"},{"name":"PhD program Clinical and Experimental Medicine University of Modena and Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Fiorini","sequence":"additional","affiliation":[{"name":"U.O.C. di Neuropsichiatria Infantile Dipartimento ad Attivit\u00e0 Integrata Materno Infantile \u2013 AOUI di Verona  Verona Italy"},{"name":"Centro Ricerca per le Epilessie in et\u00e0 Pediatrica (CREP) Azienda Ospedaliera Universitaria di Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Fontana","sequence":"additional","affiliation":[{"name":"U.O.C. di Neuropsichiatria Infantile Dipartimento ad Attivit\u00e0 Integrata Materno Infantile \u2013 AOUI di Verona  Verona Italy"},{"name":"Centro Ricerca per le Epilessie in et\u00e0 Pediatrica (CREP) Azienda Ospedaliera Universitaria di Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Darra","sequence":"additional","affiliation":[{"name":"U.O.C. di Neuropsichiatria Infantile Dipartimento ad Attivit\u00e0 Integrata Materno Infantile \u2013 AOUI di Verona  Verona Italy"},{"name":"Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona  Verona Italy"},{"name":"Centro Ricerca per le Epilessie in et\u00e0 Pediatrica (CREP) Azienda Ospedaliera Universitaria di Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo","family":"Dalla Bernardina","sequence":"additional","affiliation":[{"name":"Centro Ricerca per le Epilessie in et\u00e0 Pediatrica (CREP) Azienda Ospedaliera Universitaria di Verona  Verona 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