Physical and Family History Variables Associated With Neurological 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 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 symptom severity and need for surgery in patients with SWS.
Source: Pediatric Neurology - 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, National Institute of Health Sponsor: Rar Tags: Research Paper Source Type: research
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