KCNMA1-linked channelopathy.

ABSTRACT: KCNMA1 encodes the pore-forming α subunit of the "Big K⁺" (BK) large conductance calcium and voltage-activated K⁺ channel. BK channels are widely distributed across tissues, including both excitable and nonexcitable cells. Expression levels are highest in brain and muscle, where BK channels are critical regulators of neuronal excitability and muscle contractility. A global deletion in mouse (KCNMA1^-/- ) is viable but exhibits pathophysiology in many organ systems. Yet despite the important roles in animal models, the consequences of dysfunctional BK channels in humans are not well characterized. Here, we summarize 16 rare KCNMA1 mutations identified in 37 patients dating back to 2005, with an array of clinically defined pathological phe

SUBMITTER: Bailey CS 

PROVIDER: S-EPMC6785733 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature