{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T03:16:42Z","timestamp":1791170202149,"version":"4.1.0"},"reference-count":84,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>\n            Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q\n            <jats:italic>GNAQ<\/jats:italic>\n            somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and\n            <jats:italic>GNB2<\/jats:italic>\n            somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.\n          <\/jats:p>","DOI":"10.1161\/strokeaha.122.038585","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T09:00:12Z","timestamp":1666256412000},"page":"3769-3779","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":81,"title":["Updates on Sturge-Weber Syndrome"],"prefix":"10.1161","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8421-2251","authenticated-orcid":true,"given":"SangEun","family":"Yeom","sequence":"first","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Hugo Moser Kennedy Krieger Research Institute, Baltimore, MD (S.Y., A.M.C.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7915-6881","authenticated-orcid":true,"given":"Anne M.","family":"Comi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Hugo Moser Kennedy Krieger Research Institute, Baltimore, MD (S.Y., A.M.C.)."},{"name":"Department of Neurology (A.M.C.)"},{"name":"Department of Pediatrics (A.M.C.)"},{"name":"Johns Hopkins School of Medicine, Baltimore, MD (A.M.C.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-62702-5.00011-1"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0b013e318220c5b6"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01485.x"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nrl.2015.12.012"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1213507"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.03.978"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab144"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2021.06.030"},{"key":"e_1_3_2_10_2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.pediatrneurol.2017.04.026","article-title":"Reliability and clinical correlation of transcranial doppler ultrasound in sturge-weber syndrome.","volume":"74","author":"Offermann EA","year":"2017","unstructured":"Offermann, EA, Sreenivasan, A, DeJong, MR, Lin, DDM, McCulloch, CE, Chung, MG, Comi, et al; National Institute of Health Sponsor; Rare Disease Clinical Research Consortium (RDCRN); Brain and Vascular Malformation Consortium (BVMC); National Sturge-Weber Syndrome Workgroup. 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