CONSTITUTIVE OPENING OF THE Kv7.2 PORE ACTIVATION GATE CAUSES KCNQ2-DEVELOPMENTAL ENCEPHALOPATHY
Mario Nappi, Giulio Alberini, Alessandro Berselli, Agnese Roscioni, Maria Virginia Soldovieri, Ilenio Servettini, Vincenzo Barrese, Sarah Weckhuysen, Annie Ting Gee Chiu, Ingrid Eileen Scheffer, Fabio Benfenati, Luca Maragliano, Francesco Miceli, Maurizio Taglialatela
This study identifies two KCNQ2 variants causing developmental encephalopathies by constitutively opening the Kv7.2 pore activation gate, leading to gain-of-function effects.
Proceedings of the National Academy of Sciences · Nov 27, 2024Peer-reviewedBiophysics