Functional validation of human SK channels variants causing NEDMAB and Zimmermann-Laband syndrome-3 in <i>C. elegans</i>.

ABSTRACT: Small conductance Ca²⁺-activated K⁺ channels (SK channels) are widely expressed in the central nervous system, where they play a crucial role in modulating neuronal excitability. Recent studies have identified missense variants in the genes encoding SK2 and SK3 channels as the cause of two rare neurodevelopmental disorders: NEDMAB and ZLS3, respectively. Here, we used Caenorhabditis elegans as an in vivo model to investigate the functional consequences of these patient variants. The C. elegans orthologue KCNL-1 regulates neuronal and muscle excitability in the egg-laying system, a well-characterized model circuit. To visualize KCNL-1 expression and localization, we generated a fluorescent translational reporter at the endogenous kcnl-1 locu

SUBMITTER: Sechi S 

PROVIDER: S-EPMC12484442 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature