Ontology highlight
ABSTRACT:
SUBMITTER: Comi AM
PROVIDER: S-EPMC5509161 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Comi Anne M AM Sahin Mustafa M Hammill Adrienne A Kaplan Emma H EH Juhász Csaba C North Paula P Ball Karen L KL Levin Alex V AV Cohen Bernard B Morris Jill J Lo Warren W Roach E Steve ES
Pediatric neurology 20160316
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to mini ...[more]