NeurosciencebioRxivPreprint
BK channels of five different subunit combinations underlie the de novo KCNMA1 G375R channelopathy
Yanyan Geng, Ping Li, Alice Butler…·Karl L. Magleby
This study investigates the functional effects of a de novo KCNMA1 G375R mutation in BK channels by analyzing five subunit combinations, revealing gain-of-function and loss-of-function phenotypes.