Article

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

2025-04-16

Abstract excerpt

Small-conductance Ca 2+ -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 C. elegans as an in vivo model to inves...

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Literature Corpus work: 7ac7fc09-616f-5348-8745-db876b1e3c36
DOI: 10.1101/2025.04.11.648345

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