Andrea Meredith, Ph.D., Professor of Physiology at the University of Maryland School of Medicine, explains KCNMA1-linked channelopathy.
KCNMA1-linked channelopathy is a rare neurological disorder due to mutations in the KCNMA1 gene. That gene encodes the pore-forming subunit of certain voltage-gated potassium channels. Researchers have linked mutations of that gene to seizures, paroxysmal dyskinesia, and other types of neuromuscular and neurological dysfunction.
At present, the number of patients known to have this condition is very small (approximately 50 diagnosed cases according to the KCNMA1 Channelopathy International Advocacy Foundation). Therefore, it is important for physicians who suspect their patient may have channelopathy to contact Dr. Meredith or the Advocacy Foundation to help researchers better define the symptoms and development standards of therapy.
To learn more about Dr. Meredith’s research, visit meredithlab.org/
To stay up-to-date on this and other rare neurological disorders, visit checkrare.com/diseases/neurology-nervous-system-diseases/