{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:48:28Z","timestamp":1760147308641,"version":"build-2065373602"},"reference-count":79,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T00:00:00Z","timestamp":1674432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to prolonged seizures. The International League Against Epilepsy (ILAE) identified 13 chromosomal disorders associated with epilepsy (CDAE); data regarding SE occurrence in these patients is lacking. A systematic scoping review was conducted to outline current literature evidence about clinical features, treatments, and outcomes of SE in pediatric and adult patients with CDAE. A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, n = 20), Ring 20 Syndrome (R20, n = 24), and other syndromes (n = 21). Non-convulsive status epilepticus (NCSE) is frequently observed in AS and R20. No specific, targeted therapies for SE in CDAE are available to date; anecdotal reports about SE treatment are described in the text, as well as various brief- and long-term outcomes. Further evidence is needed to precisely portray the clinical features, treatment options, and outcomes of SE in these patients.<\/jats:p>","DOI":"10.3390\/genes14020299","type":"journal-article","created":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T04:19:22Z","timestamp":1674447562000},"page":"299","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8214-1816","authenticated-orcid":false,"given":"Luca","family":"Bergonzini","sequence":"first","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. Neuropsichiatria dell\u2019et\u00e0 Pediatrica, 40138 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum, Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7540-0776","authenticated-orcid":false,"given":"Jacopo","family":"Pruccoli","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. Neuropsichiatria dell\u2019et\u00e0 Pediatrica, 40138 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum, Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Pettenuzzo","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. Neuropsichiatria dell\u2019et\u00e0 Pediatrica, 40138 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum, Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5477-961X","authenticated-orcid":false,"given":"Rosa","family":"Pugliano","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. Neuropsichiatria dell\u2019et\u00e0 Pediatrica, 40138 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum, Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1411-9200","authenticated-orcid":false,"given":"Luca","family":"Soliani","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. 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Neuropsichiatria dell\u2019et\u00e0 Pediatrica, 40138 Bologna, Italy"},{"name":"Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum, Universit\u00e0 di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1111\/epi.13121","article-title":"A definition and classification of status epilepticus\u2014Report of the ILAE Task Force on Classification of Status Epilepticus","volume":"56","author":"Trinka","year":"2015","journal-title":"Epilepsia"},{"key":"ref_2","unstructured":"Wylie, T., Sandhu, D.S., and Murr, N. (2022, December 20). 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