{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T22:07:04Z","timestamp":1783289224135,"version":"3.54.6"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":58,"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":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tumour\u2010associated epilepsy accounts for a quarter of paediatric patients undergoing epilepsy surgery with the vast majority achieving long\u2010term seizure and drug freedom. We report the case of an eight\u2010year\u2010old patient who presented with developmental delay and overgrowth, followed by temporal lobe seizures that were attributed to a mesio\u2010temporal brain tumour, and who was eventually treated with epilepsy surgery. Histopathology revealed a diffuse astrocytoma but its gross total resection surprisingly failed to control the temporal lobe seizures. Genetic testing identified a <jats:italic>de novo<\/jats:italic> pathogenic variant in the <jats:italic>NSD1<\/jats:italic> gene, thus establishing the diagnosis of Sotos syndrome. Sotos syndrome is a rare overgrowth syndrome with an increased incidence of malignancy, including the very rare occurrence of brain tumours. Seizures are frequent in patients with Sotos syndrome, often occurring with temporal lobe semiology and ictal EEG patterns in the absence of a brain lesion, and usually responding to anti\u2010seizure medication. Our case highlights Sotos syndrome as a rare but important pitfall in the presurgical workup of temporal lobe epilepsy that should be considered particularly in MRI\u2010negative cases but also in the presence of a focal lesion that does not fully explain the clinical picture. Most importantly, our observations underline the value of thorough presurgical diagnostics including genetic testing, even in apparently straightforward cases of lesional epilepsy, to rule out an underlying genetic aetiology that may not be treated by surgery. Finally, our findings emphasize the need to re\u2010evaluate our less successful epilepsy surgery cases and offer informed counselling and prognostication.<\/jats:p>","DOI":"10.1684\/epd.2021.1287","type":"journal-article","created":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T13:07:43Z","timestamp":1626181663000},"page":"506-510","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy"],"prefix":"10.1002","volume":"23","author":[{"given":"Linda","family":"B\u00e4ttig","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics University Children's Hospital Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Rosch","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Children's Hospital Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Steindl","sequence":"additional","affiliation":[{"name":"University of Zurich Switzerland"},{"name":"Institute of Medical Genetics Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah Elisabeth","family":"B\u00fcrki","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Children's Hospital Zurich Switzerland"},{"name":"University of Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Ramantani","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Children's Hospital Zurich Switzerland"},{"name":"University of Zurich Switzerland"},{"name":"Children's Research Centre University Children's Hospital Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1615335"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1703784"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1227\/NEU.0000000000000327"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13866"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70039-5"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2018.0959"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12366"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710301"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/432082"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2013.08.029"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng863"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(10)80004-6"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2014.06.105"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30032"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03418.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201686"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34156"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<462::AID-AJMG18>3.0.CO;2-Q"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1227\/NEU.0000000000000081"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2021.1287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:14:52Z","timestamp":1710778492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2021.1287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1684\/epd.2021.1287"],"URL":"https:\/\/doi.org\/10.1684\/epd.2021.1287","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"2021-07-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}