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- W4306867548 abstract "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 GNAQ somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and GNB2 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." @default.
- W4306867548 created "2022-10-20" @default.
- W4306867548 creator A5009712304 @default.
- W4306867548 creator A5037911558 @default.
- W4306867548 date "2022-12-01" @default.
- W4306867548 modified "2023-10-01" @default.
- W4306867548 title "Updates on Sturge-Weber Syndrome" @default.
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- W4306867548 doi "https://doi.org/10.1161/strokeaha.122.038585" @default.
- W4306867548 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36263782" @default.
- W4306867548 hasPublicationYear "2022" @default.
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