{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:47:45Z","timestamp":1790459265916,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T00:00:00Z","timestamp":1657670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002661","name":"Fonds De La Recherche Scientifique - FNRS","doi-asserted-by":"publisher","award":["T.0026.14"],"award-info":[{"award-number":["T.0026.14"]}],"id":[{"id":"10.13039\/501100002661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002661","name":"Fonds De La Recherche Scientifique - FNRS","doi-asserted-by":"publisher","award":["T.0146.16"],"award-info":[{"award-number":["T.0146.16"]}],"id":[{"id":"10.13039\/501100002661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006282","name":"Koning Boudewijnstichting","doi-asserted-by":"publisher","award":["GENERET PRICE 2018"],"award-info":[{"award-number":["GENERET PRICE 2018"]}],"id":[{"id":"10.13039\/501100006282","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Sturge\u2013Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic mutations in <jats:italic>G protein subunit Alpha Q<\/jats:italic> (<jats:italic>GNAQ<\/jats:italic>). Five cases of s<jats:italic>ubunit Alpha 11<\/jats:italic> (<jats:italic>GNA11<\/jats:italic>) mutations have been reported. We studied phenotypic features of GNA11\u2010SWS and compared them with those of classic SWS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Within two European multidisciplinary centers we looked for patients with clinical characteristics of SWS and a <jats:italic>GNA11<\/jats:italic> mutation. Clinical and radiological data were collected retrospectively and prospectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified three patients with SWS associated with a somatic <jats:italic>GNA11<\/jats:italic> mutation. All had disseminated capillary malformation (CM) and hyper\u2010 or hypotrophy of an extremity. At birth, the CMs of the face, trunk and limbs were pink and patchy, and slowly darkened with age, evolving to a purple color. Two of the patients had glaucoma. All had neurological symptoms and moderate brain atrophy with a lower degree of severity than that classically associated with SWS. Susceptibility\u2010weighted imaging (SWI) and contrast\u2010enhanced fluid\u2010attenuated inversion recovery (FLAIR) magnetic resonance imaging demonstrated the best sensitivity to reveal the pial angiomas.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We have differentiated two distinct clinical\/radiological phenotypes of SWS; GNAQ\u2010 and GNA11\u2010SWS. The classic GNAQ\u2010SWS is characterized by a homogeneous dark\u2010red CM, commonly associated with underlying soft tissue hypertrophy. The CM in GNA11\u2010SWS is more reticulate and darkens with time, and the neurological picture is milder. SWI and post\u2010contrast FLAIR sequences appear to be necessary to demonstrate leptomeningeal angiomatosis. Anti\u2010epileptic medication or future targeted therapies may be useful, as in classic SWS.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15452","type":"journal-article","created":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T04:38:30Z","timestamp":1655527110000},"page":"3061-3070","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["<scp>GNA11<\/scp>\u2010mutated <scp>Sturge\u2013Weber<\/scp> syndrome has distinct neurological and dermatological features"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0081-500X","authenticated-orcid":false,"given":"Anne","family":"Dompmartin","sequence":"first","affiliation":[{"name":"Service Dermatologie CHU Universit\u00e9 Caen Normandie  Caen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0641-7072","authenticated-orcid":false,"given":"Carine J. M.","family":"van der Vleuten","sequence":"additional","affiliation":[{"name":"Dermatology &amp; Center for Vascular Anomalies University Medical Center Nijmegen  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1210-6112","authenticated-orcid":false,"given":"Val\u00e9rie","family":"Dekeuleneer","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery Cliniques Universitaires Saint\u2010Luc, Center for Vascular Anomalies  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1579-0100","authenticated-orcid":false,"given":"Thierry","family":"Duprez","sequence":"additional","affiliation":[{"name":"Radiology Cliniques universitaires Saint\u2010Luc  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7120-4903","authenticated-orcid":false,"given":"Nicole","family":"Revencu","sequence":"additional","affiliation":[{"name":"Human Genetics Cliniques universitaires Saint\u2010Luc  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1998-0761","authenticated-orcid":false,"given":"Julie","family":"D\u00e9sir","sequence":"additional","affiliation":[{"name":"Erasmus Hospital Human Genetics  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6308-4801","authenticated-orcid":false,"given":"D. Maroeska W. M.","family":"te Loo","sequence":"additional","affiliation":[{"name":"Radboudumc Pediatric Haematology &amp; Center Vascular Anomalies  Nijmegen The\u00a0Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0315-4307","authenticated-orcid":false,"given":"Uta","family":"Flucke","sequence":"additional","affiliation":[{"name":"Radboudumc Pathology &amp; Center for Vascular Anomalies  Nijmegen The\u00a0Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8264-8131","authenticated-orcid":false,"given":"Astrid","family":"Eijkelenboom","sequence":"additional","affiliation":[{"name":"Radboudumc Pathology &amp; Center for Vascular Anomalies  Nijmegen The\u00a0Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9217-278X","authenticated-orcid":false,"given":"Leo","family":"Schultze Kool","sequence":"additional","affiliation":[{"name":"Radboudumc Radiology &amp; 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