In this podcast, Editor-in-Chief Bill Yates talks with Dr. Andrea Meredith and Dr. Hans Moldenhauer about their article which compares the effects of different mutations (N999S and D434G) which are associated with the recently-identified neurological disorder called KCNMA1-linked channelopathy. This research was also featured in Episode 4 of the Netflix and New York Times documentary series Diagnosis. Listen to learn about BK channels, gain-of-function mutations, and important clinical implications of this research!
Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties
Hans J. Moldenhauer, Katia K. Matychak, and Andrea L. Meredith, Published online February 4, 2020.