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Article

Lipophilic compounds restore function to neurodevelopmental-associated KCNQ3 mutations.

Communications biology - 19 Sept 2024

Edmond Michaela A, Hinojo-Perez Andy, Efrem Mekedlawit, Yi-Chun Lin, Shams Iqra, Hayoz Sebastien, de la Cruz Alicia, Perez Rodriguez Marta E, Diaz-Solares Maykelis, Dykxhoorn Derek M, Luo Yun Lyna, Barro-Soria Rene

Abstract excerpt

A major driver of neuronal hyperexcitability is dysfunction of K+ channels, including voltage-gated KCNQ2/3 channels. Their hyperpolarized midpoint of activation and slow activation and deactivation kinetics produce a current that regulates membrane potential and impedes repetitive firing. Inherited mutations in KCNQ2 and KCNQ3 are linked to a wide spectrum of neurodevelopmental disorders (NDDs), ranging from...

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Identifiers

PMID: 39300259
DOI: 10.1038/s42003-024-06873-4
PMCID: PMC11413209

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