TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD

Authors: Brian J. Joseph, Kelly A. Marshall, Peter Harley, Jacob R. Mann, Francesco Alessandrini, Carlos G. Vanoye, Wanhao Chi, Mercedes Prudencio, Dina Simkin, Tzu-Ting Kao, Reshma R. Desai, Matthew J. Keuss, Simone Barattucci, Matteo Zanovello, Puja R. Mehta, Jean-Marc DeKeyser, Francesco Limone, Jonathan Lee, Anna-Leigh Brown, Marcel F. Leyton-Jaimes, Leslie A. Nash, Irune Guerra San Juan, Eleonora Aronica, Brian J. Wainger, Mala Shah, Anand Goswami, Neil A. Shneider, Dennis W. Dickson, Juan Burrone, Chaolin Zhang, Hynek Wichterle, Leonard Petrucelli, Jonathan K. Watts, Alfred L. George Jr, Pietro Fratta, Kevin Eggan, and Evangelos Kiskinis

Nature Neuroscience, 31 October 2025