Physical and family history variables associated with neurological and cognitive development in Sturge-Weber syndrome

AM Day, CE McCulloch, AM Hammill, C Juhász… - Pediatric …, 2019 - Elsevier
Abstract Background Sturge-Weber syndrome (SWS) is caused by a somatic mutation in
GNAQ leading to capillary venous malformations in the brain presenting with various
neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical
variability makes accurate prognosis difficult. We hypothesized that the greater extent of
physical factors (extent of skin, eye, and brain involvement), presence of possible genetic
factors (gender and family history), and age of seizure onset may be associated with greater …