{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T03:42:30Z","timestamp":1768534950062,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T00:00:00Z","timestamp":1617926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002736","name":"Citizens United for Research in Epilepsy","doi-asserted-by":"publisher","award":["439534"],"award-info":[{"award-number":["439534"]}],"id":[{"id":"10.13039\/100002736","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%\u201090% have <jats:italic>NSD1<\/jats:italic> pathogenic variants. Patients were recruited from clinics and referral from support groups. Those with seizures and a clinical diagnosis of Sotos syndrome were included. Phenotyping data were collected via structured clinical interview and chart review. Forty\u2010nine patients were included. Twenty had <jats:italic>NSD1<\/jats:italic> testing results available; of these, 15 (75%) had <jats:italic>NSD1<\/jats:italic> pathogenic variants. Seizure onset age ranged from 3\u00a0months to 12\u00a0years. Staring spells (absence or focal impaired awareness seizure) were the most frequently reported semiology (33\/49; 67%), followed by febrile seizures (25\/49; 51%) and afebrile bilateral tonic\u2010clonic seizures (25\/49; 51%). Most patients (33\/49; 67%) had multiple seizure types. The majority (33\/49; 67%) had seizures controlled on a single antiseizure medication or no medication. Nine (18%) had drug\u2010resistant epilepsy. Epilepsy syndromes included febrile seizures plus, Lennox\u2010Gastaut syndrome, childhood absence epilepsy, and generalized tonic\u2010clonic seizures alone. The seizure phenotype in Sotos syndrome most commonly involves staring spells, afebrile\u00a0tonic\u2010clonic seizures or febrile convulsions; however, other seizure types may occur. Seizures are typically well\u2010controlled with medication, but drug\u2010resistant epilepsy occurs in a minority.<\/jats:p>","DOI":"10.1002\/epi4.12484","type":"journal-article","created":{"date-parts":[[2021,3,28]],"date-time":"2021-03-28T15:50:57Z","timestamp":1616946657000},"page":"425-430","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Seizures in Sotos syndrome: Phenotyping in 49 patients"],"prefix":"10.1002","volume":"6","author":[{"given":"Olivier","family":"Fortin","sequence":"first","affiliation":[{"name":"Department of Pediatrics Montreal Children\u2019s Hospital McGill University Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Vincelette","sequence":"additional","affiliation":[{"name":"School of Nursing Faculty of Medicine and Health Sciences University of Sherbrooke Sherbrooke Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afsheen Q.","family":"Khan","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Centre Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saoussen","family":"Berrahmoune","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Centre Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christelle","family":"Dassi","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Centre Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitra","family":"Karimi","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Centre Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2311-2174","authenticated-orcid":false,"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine Austin Health The University of Melbourne Heidelberg Victoria Australia"},{"name":"Department of Paediatrics Royal Children\u2019s Hospital The University of Melbourne Flemington Victoria Australia"},{"name":"The Florey Institute of Neuroscience and Mental Health Heidelberg Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Haikou People\u2019s Hospital Haikou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kellie","family":"Davis","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics College of Medicine University of Saskatchewan Saskatoon Saskatchewan Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7831-4593","authenticated-orcid":false,"given":"Kenneth A.","family":"Myers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Montreal Children\u2019s Hospital McGill University Montreal Quebec Canada"},{"name":"Research Institute of the McGill University Health Centre Montreal Quebec Canada"},{"name":"Department of Neurology &amp; Neurosurgery Montreal Children\u2019s Hospital McGill University Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710301"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201686"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/345647"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10270"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.001"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.02.011"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/432082"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03418.x"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.20"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200410000-00001"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.12.003"},{"key":"e_1_2_9_13_1","first-page":"1499","article-title":"Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome","volume":"118","author":"Tong TM","year":"2005","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2020.10.016"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.08.013"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12484","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/epi4.12484","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T17:35:09Z","timestamp":1693416909000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,9]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/epi4.12484"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12484","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,9]]},"assertion":[{"value":"2021-01-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}