{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T17:50:27Z","timestamp":1791395427585,"version":"4.3.3"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T00:00:00Z","timestamp":1703721600000},"content-version":"vor","delay-in-days":0,"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":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Most patients with Dravet syndrome (DS) have unremarkable neuroimaging studies. However, a small number of patients exhibit focal abnormalities that may modify the epilepsy phenotype. We report a case series of DS patients carrying <jats:italic>SCN1A<\/jats:italic> variants concurrent with additional focal brain lesions, aiming to provide details regarding their clinical course, electrographic findings, and imaging features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reviewed the electronic medical records of patients with developmental and epileptic encephalopathies in our center, from January 2000 to December 2022, identifying 90 patients with DS resulting from <jats:italic>SCN1A<\/jats:italic> variants. Of these, patients displaying focal brain lesions were eligible.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five patients (4 males and 1 female), with median age of 26\u2009years, were included. All exhibited clinical and electroencephalographic features consistent with the DS spectrum. Sequencing analysis of the <jats:italic>SCN1A<\/jats:italic> gene identified pathogenic variants. Magnetic resonance imaging (MRI) revealed focal cortical dysplasia (FCD) in two patients, while the remaining three had cystic lesions. Three patients had previously undergone resective epilepsy surgery in other centers, with no improvement in seizure frequency. Neuropathology studies revealed the presence of FCD type IIA, intracranial teratomas, and dysembryoplastic neuroepithelial tumor (DNET).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>When an individual with an established diagnosis of genetic epilepsy and a focal lesion on MRI is undergoing preoperative evaluation, it is crucial to conduct a comprehensive analysis to understand the relevance of the focal finding for the patient's phenotype and thus anticipate potential surgical outcomes. In instances where epilepsy in DS patients is influenced by a specific focal structural lesion, resective surgery should be carefully considered after precise pharmacological treatment, acknowledging the persistent influence of an <jats:italic>SCN1A<\/jats:italic> variant on expected outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epd2.20191","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T11:19:30Z","timestamp":1703071170000},"page":"173-180","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Epileptogenic focal lesions in Dravet syndrome: A warning to investigators"],"prefix":"10.1002","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0952-3353","authenticated-orcid":false,"given":"Rita","family":"Ventura","sequence":"first","affiliation":[{"name":"Hospital Egas Moniz \u2013 Neurology  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2743-0978","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Beltr\u00e1n\u2010Corbellini","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Ruber Internacional Ringgold standard institution  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Toledano","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Ruber Internacional Ringgold standard institution  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene S\u00e1nchez\u2010Miranda","family":"Rom\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Ruber Internacional Ringgold standard institution  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Garc\u00eda\u2010Morales","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Ruber Internacional Ringgold standard institution  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4515-0793","authenticated-orcid":false,"given":"Antonio","family":"Gil\u2010Nagel","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Ruber Internacional Ringgold standard institution  Madrid Spain"},{"name":"Fundaci\u00f3n Iniciativa por las Neurociencias\u2014(FINCE)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2022.107041"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.14581\/jer.21019"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.02994.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3171\/2015.5.PEDS14551"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.02998.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12658"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14588"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3233\/JPN-2011-0508"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01020.x"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-016-3201-4"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.023"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.20191","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T06:54:18Z","timestamp":1741762458000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.20191"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,28]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/epd2.20191"],"URL":"https:\/\/doi.org\/10.1002\/epd2.20191","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,28]]},"assertion":[{"value":"2023-09-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}