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Structural and Functional Characterization of the KCNJ6 G154C Variant Reveals Severe GIRK2 Channel Gain-of-Function and Opportunities for Drug Repurposing

2026-07-31

Abstract excerpt

G protein-gated inwardly rectifying potassium (GIRK2) channels regulate neuronal excitability and are implicated in neurodevelopmental disorders. A rare KCNJ6 variant, G154C (hGIRK2 G154C ), was identified in a patient with mild Keppen-Lubinsky syndrome features, contrasting with severe phenotypes linked to other selectivity filter mutations. Here we combined molecular dynamics simulations and patch-clamp electro...

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Literature Corpus work: 71808f61-ab79-5155-9e03-7ac8f4ffdd23
DOI: 10.64898/2026.07.28.741201

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