@inbook{5d459eb9e9c04f58b73ba23fdcdc3745,
title = "Sturge-Weber Syndrome",
abstract = "Sturge-Weber syndrome (SWS) is the association of the facial port-wine birthmark with malformed leptomeningeal blood vessels and abnormal venous eye vessels. Occurrence is sporadic and in both males and females and reported in all racial and ethnic backgrounds. The genetic cause accounting for SWS is a somatic mosaic mutation in the GNAQ gene encoding the Gαq protein. Testing for this somatic mosaic mutation may be useful in the future for differentiating a SWS diagnosis in these patients from other capillary malformation related syndromes, such as -megalencephaly-capillary malformation-polymicrogyria syndrome, which also have capillary malformations but are otherwise different in terms of prognosis and associated complications. With the discovery of the causative somatic mosaic mutation, current SWS research will likely result in new in vitro and animal models, potential novel treatment strategies, and new insights into the pathophysiology of this vascular malformation disorder.",
keywords = "Glaucoma, Leptomeningeal angiomatosis, Port-wine birthmark, Seizures, Somatic mutation, Vascular anomaly",
author = "Comi, {Anne M.} and Marchuk, {Douglas A.} and Jonathan Pevsner",
note = "Funding Information: The rarity of Sturge–Weber syndrome and the lack of a coordinated network of research centers (until recently) able to carry out clinical trials on SWS have been barriers to the development of new treatments and the development of consensus in the approach to treatment. However, in the last 4 years, a network of Sturge–Weber syndrome clinical research groups has developed through the Brain Vascular Malformation Consortium with funding from the National Institutes of Health Office of Rare Diseases Research at the National Center for Advancing Translational Science and the National Institute of Neurological Disorders and Stroke. This network is beginning pilot clinical trials with inhibitors of the hyperactivated pathways downstream of GNAQ in the near future. Funding Information: We acknowledge editorial assistance from Cathy Bachur. We are also grateful for funding from the National Institute of Neurological Disorders and Stroke (NINDS) (National Institutes of Health [NIH] U54NS065705, to Drs. Marchuk, Comi, and Pevsner) and from Hunter{\textquoteright}s Dream for a Cure Foundation (to Dr. Comi). The Brain Vascular Malformation Consortium (U54NS065705) is a part of the NIH Rare Disease Clinical Research Network, supported through a collaboration between the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science and the NINDS. Publisher Copyright: {\textcopyright} 2015 Elsevier Inc. All rights reserved.",
year = "2014",
month = nov,
day = "13",
doi = "10.1016/B978-0-12-410529-4.00081-4",
language = "English (US)",
isbn = "9780124105492",
pages = "945--953",
booktitle = "Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease",
publisher = "Elsevier Inc.",
}