Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

ABSTRACT: Aberrant activation or inhibition of potassium (K⁺) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K⁺ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated K⁺ channel), belongs to the mechano-gated ion channels of the TRAAK/TREK subfamily of two-pore-domain (K2P) K⁺ channels. While K2P channels are well known to contribute to the resting membrane potential and cellular excitability, their involvement in pathophysiological processes remains largely uncharacterized. We report that de novo missense mutations in KCNK4 cause a recognizable syndrome with a

SUBMITTER: Bauer CK 

PROVIDER: S-EPMC6174320 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature