{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:05:52Z","timestamp":1790741152490,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T00:00:00Z","timestamp":1493078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["628952"],"award-info":[{"award-number":["628952"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study was designed to describe the spectrum of epilepsy phenotypes in Koolen\u2010de Vries syndrome (Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content>), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KANSL<\/jats:styled-content>1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We were invited to attend a large gathering of individuals with Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content> and their families. While there, we recruited individuals with Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content> and seizures, and performed thorough phenotyping. Additional subjects were included who approached us after the family support group brought attention to our research via social media. Inclusion criteria were genetic testing results demonstrating 17q21.31 deletion or <jats:italic><jats:styled-content style=\"fixed-case\">KANSL<\/jats:styled-content>1<\/jats:italic> mutation, and at least one seizure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010one individuals were studied, aged 2\u201335 years. Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features. Twenty\u2010one patients had prolonged seizures and, at times, refractory status epilepticus. <jats:styled-content style=\"fixed-case\">Electroencephalography (EEG)<\/jats:styled-content> showed focal\/multifocal epileptiform discharges in 20 of 26. <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> studies of 13 patients were reviewed, and all had structural anomalies. Corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles were the most common, although periventricular nodular heterotopia, focal cortical dysplasia, abnormal sulcation, and brainstem and cerebellum abnormalities were also observed. One patient underwent epilepsy surgery for a lesion that proved to be an angiocentric glioma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>The typical epilepsy phenotype of Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content> involves childhood\u2010onset focal seizures that are prolonged and have prominent autonomic features. Multifocal epileptiform discharges are the typical <jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content> pattern. Structural brain abnormalities may be universal, including signs of abnormal neuroblast migration and abnormal axonal guidance. Epilepsy surgery should be undertaken with care given the widespread neuroanatomic abnormalities; however, tumors are a rare, yet important, occurrence.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.13746","type":"journal-article","created":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T13:21:28Z","timestamp":1493126488000},"page":"1085-1094","source":"Crossref","is-referenced-by-count":31,"title":["The epileptology of Koolen\u2010de Vries syndrome: Electro\u2010clinico\u2010radiologic findings in 31 patients"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7831-4593","authenticated-orcid":false,"given":"Kenneth A.","family":"Myers","sequence":"first","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre The University of Melbourne, Austin Health Heidelberg Victoria Australia"},{"name":"Section of Neurology Department of Pediatrics Alberta Children's Hospital Cumming School of Medicine University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone A.","family":"Mandelstam","sequence":"additional","affiliation":[{"name":"Department of Paediatrics The University of Melbourne Parkville Victoria Australia"},{"name":"Department of Radiology The University of Melbourne Parkville Victoria Australia"},{"name":"The Florey Institute of Neuroscience and Mental Health Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7931-2327","authenticated-orcid":false,"given":"Georgia","family":"Ramantani","sequence":"additional","affiliation":[{"name":"Division of Child Neurology University Children's Hospital Zurich Switzerland"},{"name":"Swiss Epilepsy Center Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth J.","family":"Rushing","sequence":"additional","affiliation":[{"name":"Department of Neuropathology University Hospital Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre The University of Melbourne, Austin Health Heidelberg Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne Parkville Victoria Australia"},{"name":"The Florey Institute of Neuroscience and Mental Health Heidelberg Victoria Australia"},{"name":"Department of Neurology Royal Children's Hospital Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,25]]},"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":"10.1136\/jmg.2008.065391"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000073"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1862"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1853"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1858"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2262"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2257"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103184"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.178"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.10.011"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.11.003"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.04.010"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1992.tb01760.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1985.tb05417.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1989.tb05316.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182563b19"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5357"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2016.05.005"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000182981.02355.10"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2005.tb00112.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2016.08.012"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.3109\/0284186X.2015.1107190"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2016.02.002"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2009.07.031"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.13746","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.13746","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T05:28:10Z","timestamp":1696224490000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.13746"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,25]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1111\/epi.13746"],"URL":"https:\/\/doi.org\/10.1111\/epi.13746","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,25]]}}}