Article

Molecular mechanism of partially open Kv7.2 gate stabilization by gain-of-function variants

2026-07-16

Abstract excerpt

Gain-of-function (GoF) variants in the Kv7.2 channel are associated with a clinically relevant subset of neurodevelopmental disorders. While most GoF substitutions identified so far affect the voltage-sensing domain, we recently described three mutations in the intracellular-facing activation gate (AG), G313S, A317T, and L318V. Electrophysiological recordings showed that these variants increase macroscopic current...

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Literature Corpus work: 83094993-a81d-574a-8cda-3301e8e88c70
DOI: 10.64898/2026.07.15.738424

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