what is a gnaq gene sturge weber
Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology). It is caused by a somatic activating mutation occurring in the GNAQ gene. Radiological findings will show tram track calcifications on CT, bilaterally.