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Clinician & Family Presentations
Maryland Ballroom
5:30p: Professional Registration
5:45p: Doors Open
6:00p:
Manoj Patel
and
Hillary Savoie
- Welcome
6:10p:
John Schreiber, M.D. Children’s National Hospital
Data from the SCN8A Multidisciplinary Clinic and Improving Access to Expert Care in SCN8A
6:25p:
Ethan Goldberg, M.D. Ph.D. Children’s Hospital of Philadelphia
Insights into SCN8A variant pathogenesis and anti-seizure therapy from a single center cohort
6:40p:
Katrine M Johannesen, MD Danish Epilepsy Centre
SCN8A-related disorders: correlations in phenotype and epilepsy characteristics with including functional effects
6:55p:
Marina Trivisano, MD, Ph.D. Ospedale Pediatrico Bambino Gesù
Autonomic signs in SCN8A developmental and epileptic encephalopathy
7:10p:
Michael Hammer, Ph.D. University of Arizona
Discoveries from SCN8A.net
7:30p WORKING DINNER
7:50p: Memorial Moments and CUTIES Awards
8:00p:
Cinzia Scarcelli,
Recipient, Dr. Mandy Harris Travel Grant
8:10p: Roland Waegner, Recipient, Dr. Mandy Harris Travel Grant
Industry Updates
8:20p:
Noam N Butterfield, PhD, PMP,
and
Cynthia L Harden, MD,
Xenon Pharmaceuticals Inc.
Xenon: Update on XEN901
8:35p:
Marion Wittmann, Ph.D. Praxis Precision Medicines
PRAX-330, a novel persistent sodium current blocker for the treatment of SCN8A epileptic encephalopathy
Researcher Presentations & Discussion
8:50p:
Ian Wenker, Ph.D. Manoj Patel’s Lab University of Virginia
Cardiorespiratory dysfunction in two mice models of SCN8A epilepsy
9:05p:
Miriam Meisler, Ph.D. University of Michigan
Pre-clinical evaluation of ASO therapy for SCN8A encephalopathy
9:20p:
Professional Discussion
10:00p: Closing
Home
About
About SCN8A
About Us
Partner Organizations
Volunteers
Sponsors
2020 Annual Report
Families
Caregiver Support
Join our SCN8A Community
SCN8A Warriors
Reference Guide
Resources
Shareable Graphics
Events
Annual SCN8A Clinician, Researcher, and Family Gathering
>
CUTIES Awards
Researcher Roundtable
Awareness Day
Research
Research Grants
SCN8A Registry
Clinical Trials
Donate
How You Can Help
SCN8A Awareness Gifts
Contact
Gathering Family Portal
2021 Annual Gathering
>
Video Page
2020 Annual Gathering
>
Video Page
2019 Annual Gathering
>
Day 1 Agenda
Day 2 Agenda
Presentations
Speakers
Video Page
SCN8A Lexicon
Blog
Shop