{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T21:08:24Z","timestamp":1790197704664,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":33,"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":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Koolen\u2010de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in <jats:italic>KANSL1<\/jats:italic>. Affected patients most commonly exhibit some or all of the following: neonatal hypotonia, developmental impairment, facial dysmorphic features, and congenital malformations. Epilepsy occurs in approximately half, often with phenotypes on the epilepsy\u2010aphasia spectrum. We describe six children with KdVS found to have continuous spike\u2010wave in sleep (CSWS) on EEG, four of whom were diagnosed with epileptic encephalopathy with CSWS and two with Landau\u2010Kleffner syndrome. When compared with other children with CSWS on EEG, patients with KdVS may present at slightly later ages and with a longer interval between seizure diagnosis and identification of CSWS. There is no clear best treatment for children with CSWS, but two patients in our cohort were trialed on a variation of the ketogenic diet, and both reported clinical improvement. In one of the patients, the response was dramatic, and CSWS recurred when weaning of the ketogenic diet was attempted. Based on our findings, an EEG capturing a prolonged period of sleep should be arranged in any child with KdVS presenting with developmental regression or plateau, particularly if they have a preceding history of seizures.<\/jats:p>","DOI":"10.1684\/epd.2022.1452","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T20:00:09Z","timestamp":1665518409000},"page":"928-933","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Koolen\u2010de Vries syndrome associated with continuous spike\u2010wave in sleep"],"prefix":"10.1002","volume":"24","author":[{"given":"Afsheen Q.","family":"Khan","sequence":"first","affiliation":[{"name":"Research Institute of the McGill University Medical Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohini K.","family":"Coorg","sequence":"additional","affiliation":[{"name":"Department of Neurology Texas Children\u2019s Hospital  Houston Texas USA"},{"name":"Department of Pediatric Neurology Baylor University  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Gill","sequence":"additional","affiliation":[{"name":"Department of Neurology The Children\u2019s Hospital at Westmead  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Marini","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Salesi Pediatric Hospital, United Hospitals of Ancona  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth A.","family":"Myers","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Medical Centre  Montreal Quebec Canada"},{"name":"Department of Neurology and Neurosurgery Montreal Children\u2019s Hospital, McGill University Health Centre  Montreal Quebec Canada"},{"name":"Division of Neurology, Department of Pediatrics Montreal Children\u2019s Hospital, McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058701"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1853"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2262"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2257"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103184"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065391"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.178"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13746"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-015-0554-0"},{"key":"e_1_2_7_11_1","unstructured":"SpecchioN WirrellEC SchefferIE NabboutR RineyK SamiaP et al. 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Epileptic syndromes in infancy, childhood and adolescence - 6th edition","author":"Tassinari CA","year":"2019"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2019.1054"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.10.010"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01958.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2015.03.003"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2015.03.017"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1990.tb05518.x"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2022.1452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T07:28:11Z","timestamp":1713598091000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2022.1452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1684\/epd.2022.1452"],"URL":"https:\/\/doi.org\/10.1684\/epd.2022.1452","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10]]},"assertion":[{"value":"2022-01-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}