Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research  Anne M. Comi, MD, Mustafa Sahin, MD, PhD, Adrienne Hammill, MD, PhD, Emma H. Kaplan, BA, Csaba Juhász, MD, PhD, Paula North, MD, PhD, Karen L. Ball, BS, Alex V. Levin, MD, MHSc, FRCSC, Bernard Cohen, MD, Jill Morris, PhD, Warren Lo, MD, E. Steve Roach, MD Nicolas Abreu, MD, Maria Acosta, MD, Karen L. Ball, Audina Berrocal, MD, Joyce Bischoff, PhD, James Brodie, Craig Burkhart, MD, Bernard Cohen, MD, Anne M. Comi, MD, Gosia Dymerska, David Eckstein, PhD, Mabel Enriquez-Algeciras, Joshua Ewen, MD, Brian Fisher, Sharon Freedman, MD, Emily Germain-Lee, MD, Roy Geronemus, MD, Michael Gold, MD, Rashmi Gopal- Srivastava, MS, PhD, Adrienne Hammill, MD, PhD, Adelaide Hebert, MD, Lan Huang, PhD, Henry Jampel, MD, MHS, Csaba Juhász, MD, PhD, Emma H. Kaplan, Matsanga Kaseka, MD, Yasmine Kirkorian, MD, Eric Kossoff, MD, Alex V. Levin, MD, MHSc, FRCSC, Doris Lin, MD, PhD, Warren Lo, MD, Jeffrey Loeb, MD, PhD, Kalyani Marathe, MD, MPH, Doug Marchuk, PhD, Alice Mead, JD, Scott Mellis, MD, PhD, Jill Morris, PhD, Timothy Murray, MD, MBA, FACS, Paula North, MD, PhD, Thuy Phung, MD, PhD, Anna Pinto, MD, PhD, Kate Puttgen, MD, Nancy Ratner, PhD, Jennifer Reeve, MD, PhD, Steve Roach, MD, Mustafa Sahin, MD, PhD, Charles Swindell, PhD, Hung Tseng, PhD, Miriya Tune, Sarah Wetzel-Strong, PhD, Monica White, PharmD, Vicky Whittemore, PhD Anne M. Comi, MD, Mustafa Sahin, MD, PhD, Adrienne Hammill, MD, PhD, Emma H. Kaplan, BA, Csaba Juhász, MD, PhD, Paula North, MD, PhD, Karen L. Ball, BS, Alex V. Levin, MD, MHSc, FRCSC, Bernard Cohen, MD, Jill Morris, PhD, Warren Lo, MD, E. Steve Roach, MD Nicolas Abreu, MD, Maria Acosta, MD, Karen L. Ball, Audina Berrocal, MD, Joyce Bischoff, PhD, James Brodie, Craig Burkhart, MD, Bernard Cohen, MD, Anne M. Comi, MD, Gosia Dymerska, David Eckstein, PhD, Mabel Enriquez-Algeciras, Joshua Ewen, MD, Brian Fisher, Sharon Freedman, MD, Emily Germain-Lee, MD, Roy Geronemus, MD, Michael Gold, MD, Rashmi Gopal-Srivastava, MS, PhD, Adrienne Hammill, MD, PhD, Adelaide Hebert, MD, Lan Huang, PhD, Henry Jampel, MD, MHS, Csaba Juhász, MD, PhD, Emma H. Kaplan, Matsanga Kaseka, MD, Yasmine Kirkorian, MD, Eric Kossoff, MD, Alex V. Levin, MD, MHSc, FRCSC, Doris Lin, MD, PhD, Warren Lo, MD, Jeffrey Loeb, MD, PhD, Kalyani Marathe, MD, MPH, Doug Marchuk, PhD, Alice Mead, JD, Scott Mellis, MD, PhD, Jill Morris, PhD, Timothy Murray, MD, MBA, FACS, Paula North, MD, PhD, Thuy Phung, MD, PhD, Anna Pinto, MD, PhD, Kate Puttgen, MD, Nancy Ratner, PhD, Jennifer Reeve, MD, PhD, Steve Roach, MD, Mustafa Sahin, MD, PhD, Charles Swindell, PhD, Hung Tseng, PhD, Miriya Tune, Sarah Wetzel-Strong, PhD, Monica White, PharmD, Vicky Whittemore, PhD  Pediatric Neurology  Volume 58, Pages 12-24 (May 2016) DOI: 10.1016/j.pediatrneurol.2015.11.009 Copyright © 2016 Terms and Conditions

Figure 1 Diagram of molecular pathways that are probably upregulated by Sturge-Weber syndrome (SWS)/port-wine birthmark (PWB) R183Q mutation in GNAQ. Evidence for these pathways is derived from cells transfected with the mutation1,5 and from immunohistochemistry in human tissue.6 (The color version of this figure is available in the online edition.) Pediatric Neurology 2016 58, 12-24DOI: (10.1016/j.pediatrneurol.2015.11.009) Copyright © 2016 Terms and Conditions

Figure 2 Recommended approach for surveying experts to arrive at clinical consensus by quantifying survey responses and level of consensus. Pediatric Neurology 2016 58, 12-24DOI: (10.1016/j.pediatrneurol.2015.11.009) Copyright © 2016 Terms and Conditions