Publication
Gain of function due to increased opening probability by two
KCNQ5
pore variants causing developmental and epileptic encephalopathy
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaetan Lesca, Audrey Labalme, Dorothee Ville, Thomas Smol, Mélanie Rama, Anne Dieux-Coeslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela
Proceedings of the National Academy of Sciences, April 2022, Proceedings of the National Academy of Sciences
DOI: 10.1073/pnas.2116887119