Analysis of a Novel Primary Periodic Paralysis SCN4A Mutation With Pain as a Major Phenotype
In Progress
Status
2023
Grant Year
ANF Development Grant
Grant Type
Tyler Nelson, PhD
Recipient
University of Florida
Location
Project Summary
With his expertise in neurobiology and personal experience as a patient, Dr. Nelson brings a unique perspective to this field of research. Dr. Nelson plans to generate a mouse model with the same skeletal muscle channelopathy found in himself and his immediate family, which will serve as the basis for most of his research. He will also conduct electrophysiological recordings from cells transfected with normal and pathogenic sodium muscle channels, seeking to understand the functional defects associated with the mutation.
Once the pathophysiology is understood, Dr. Nelson will explore pharmacological therapeutic options for treating the mutant channel. “By unraveling the intricate interplay between skeletal muscle ion-channel genes, myalgia, and pain, my research holds the potential to catalyze a paradigm shift in the approach of healthcare professionals to these conditions,” he said. Following completion of the research, Dr. Nelson will present his findings at an AANEM Annual Meeting.
