Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.

  title={Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.},
  author={Anne M Comi and Mustafa Sahin and Adrienne M Hammill and Emma H. Kaplan and Csaba Juh{\'a}sz and Paula E. North and Karen Le Ball and Alex V Levin and Bernard A. Cohen and Jill A. Morris and Warren David Lo and Elizabeth S Roach},
  journal={Pediatric neurology},
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to… CONTINUE READING