{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T20:39:23Z","timestamp":1793824763910,"version":"4.6.1"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,1,13]],"date-time":"2024-01-13T00:00:00Z","timestamp":1705104000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Research & Development Program of Beijing Municipal Education Commission","award":["KM202210025003"],"award-info":[{"award-number":["KM202210025003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>We aimed to investigate the clinicopathologic features of and genetic changes in Sturge-Weber syndrome (SWS) in patients with refractory epilepsy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Clinical data were retrospectively analyzed. H&amp;E and immunohistochemistry were performed to assess pathologic changes. Targeted amplicon sequencing was applied to investigate the somatic GNAQ (c.548G&amp;gt;A) mutation. The potential predictors of seizure outcomes were estimated by univariate and multivariate statistical analyses.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Forty-eight patients with SWS and refractory epilepsy were enrolled. According to the imaging data and pathologic examination, ipsilateral hippocampal sclerosis (HS), calcification of leptomeningeal arteries, and focal cortical dysplasia were found in 14 (29.2%), 31 (64.6%), and 37 (77.1%) patients, respectively. A high frequency of GNAQ alteration was detected in both cerebral cortex (57.7%) and ipsilateral hippocampus (50.0%) from patients with SWS. During follow-up, 43 of 48 patients (85.4%) had achieved seizure control (Engel class I). Statistically, HS signs on imaging were found to be independent predictors of unfavorable seizure outcomes (P = .015).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Calcification of leptomeningeal arteries, focal cortical dysplasia, and GNAQ alteration are common features in SWS pathology. Patients with refractory epilepsy caused by SWS can achieve satisfactory seizure control after surgery, but seizure control was compromised in patients with comorbid HS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ajcp\/aqad174","type":"journal-article","created":{"date-parts":[[2024,1,13]],"date-time":"2024-01-13T14:52:43Z","timestamp":1705157563000},"page":"469-482","source":"Crossref","is-referenced-by-count":7,"title":["Clinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy"],"prefix":"10.1093","volume":"161","author":[{"given":"Zejun","family":"Duan","sequence":"first","affiliation":[{"name":"Department of Pathology, Xuanwu Hospital, Capital Medical University , Beijing , China"},{"name":"Departments of Pathology, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Xu","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingguo","family":"Xie","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolin","family":"Tian","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiongfei","family":"Wang","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Feng","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuguang","family":"Guan","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zhou","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5084-2458","authenticated-orcid":false,"given":"Guoming","family":"Luan","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueling","family":"Qi","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Sanbo Brain Hospital, Capital Medical University , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9473-9177","authenticated-orcid":false,"given":"Dehong","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Xuanwu Hospital, Capital Medical University 1 , Beijing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,1,13]]},"reference":[{"key":"2024050205530642600_CIT0001","first-page":"909","article-title":"Sturge-Weber syndrome","volume-title":"Childs Nerv Syst.","author":"Di Rocco","year":"2006"},{"key":"2024050205530642600_CIT0002","first-page":"301","article-title":"Sturge-Weber syndrome: study of 55 patients","volume-title":"Can J Neurol Sci.","author":"Pascual-Castroviejo","year":"2008"},{"key":"2024050205530642600_CIT0003","first-page":"3431","article-title":"Characteristics, surgical outcomes, and influential factors of epilepsy in Sturge-Weber 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