CACNA1A Genetics: What We Know & What We’re Learning
Laina Lusk, MMSc, CGC, Children’s Hospital of Philadelphia; Liz Butler, MS, CGC, GeneDx
The Neurology & Clinical Management of CACNA1A-related Abnormal Eye Movement, Dystonia, and Imbalance
Joanna Jen, MD, PhD, Mt. Sinai; Aasef Shaikh, MD, PhD, Case Western Reserve University; Scott Grossman, MD, NYU Grossman School of Medicine
Update on the CACNA1A Natural History Study & Why Participation Matters
Wendy Chung, MD, Columbia University
Keynote Address
Leah Schust Myers, FamilieSCN2A Foundation
CACNA1A & Sleep – It’s Way More Than the Channel!
Joshua Rotenberg, MD, Houston Specialty Clinic
CACNA1A & Sleep – It’s Way More Than the Channel!
Joshua Rotenberg, MD, Houston Specialty Clinic
Concluding Remarks
Pangkong Fox, PhD, CACNA1A Foundation
Foundation Update
Lisa Manaster, CACNA1A Foundation
CACNA1A-related Hemiplegic Migraine: What it is and What is being Done
Ingo Helbig, MD, Children’s Hospital of Philadelphia; Irene de Boer, MD, MSc, Leiden University Medical Center; Zameel Cader, DPhil, MRCP, Oxford Headache Centre, Oxford University Hospitals
Welcome to Day 2
Sunitha Malepati, CACNA1A Foundation
CACNA1A Therapeutic Strategies – Lessons from Other Ion Channels
Alfred L. George Jr., MD, Northwestern University
Due to the inclusion of unpublished research, the following two presentations were not recorded:
Functional Characterization (Gain of Function/Loss of Function) of CACNA1A Variants and Implications for Therapeutics Henry Colecraft, PhD, Columbia University
Characterizing an Allelic Series of Rare Missense Variants of CACNA1A in a Cohort of Patients with Severe Neurodevelopmental Disorders Jen Pan, PhD, Broad Institute, MIT