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Mountain Standard Time (UTC-6) SESSION 8:30am Welcome and Introduction
• Sara James, KCNQ2 Cure Vice President
8:40am KCNQ2 101 with an update on subtypes
• Ingrid Scheffer, MD, University of Melbourne
9:15am Cambridge Elements and Q2 Cell Lines
• Alfred George, MD, Northwestern University
9:50am Deciphering the Genetics in KCNQ2
• Stacey Cohen, MS LCGC, CHOP
10:25am BREAK
10:35am Invitae/Ciitizen update and how to participate
• Daniel Anderson, Invitae/Ciitizen
11:10am Update on Clinical Trial
• Celene Grayson, Principal Scientist, Xenon Pharma
11:45am Biohaven and KCNQ2-DEE
• Jason Lerner, Biohaven Pharmaceuticals
12:00pm LUNCH BREAK
1:00pm Seizure Types in KCNQ2 and Indicated Medications
• John Millichap, MD, Northwestern University
1:35pm Natural History Study Update
• Ann Poduri, MD, Boston Children’s
2:10pm KCNQ2 Research in Europe
• Sarah Weckhuysen, MD, University of Antwerp
2:45pm BREAK
3:00pm Gene Therapies for Neurological Disorders with a Focus on KCNQ2 Include Editing Strategies
• Orrin Devinsky, MD, NYU
3:35pm Applied Behavioral Analysis (ABA) Therapy
• Carrie Scott, MEd , Thrive Autism Collaborative
4:10pm Let’s Talk-Puberty in Special Medical Needs Population
• Eliza Buyers, MD, Children’s Hospital Colorado
2022 SUMMIT