Physical and Family History Variables Associated with Neurologic and Cognitive Development in Sturge-Weber Syndrome

Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary-venous malformations in the brain presenting with various neurologic, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that 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 symptom severity and need for surgery in patients with SWS.

Source: Pediatric Neurology - December 19, 2018 Category: Neurology Authors: Alyssa M. Day, Charles E. McCulloch, Adrienne M. Hammill, Csaba Juh ász, Warren D. Lo, Anna L. Pinto, Daniel K. Miles, Brian J. Fisher, Karen L. Ball, Angus A. Wilfong, Alex V. Levin, Avrey J. Thau, Anne M. Comi, Collaborators: National Institute of Heal Tags: Research Paper Source Type: research