BiophysicsProceedings of the National Academy of SciencesPeer-reviewed
CONSTITUTIVE OPENING OF THE Kv7.2 PORE ACTIVATION GATE CAUSES KCNQ2-DEVELOPMENTAL ENCEPHALOPATHY
Mario Nappi, Giulio Alberini, Alessandro Berselli…·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.
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