Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

May 8, 2013

The New England Journal of Medicine reports the cause of Sturge-Weber and Port Wine Stains is found by researchers after 25 years.

"The Sturge–Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke, and intellectual disability."  Read more.