An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel.
Janire UrrutiaAlejandra AguadoCarolina Gomis-PerezArantza Muguruza-MonteroOscar R BallesterosJiaren ZhangEider NuñezCovadonga MaloHee Jung ChungAritz LeonardoAitor BergaraAlvaro VillarroelPublished in: BMC biology (2021)
Our data suggest that the key pathogenic mechanism of Kv7.2 W344R mutation involves the failure to adopt a configuration that can be recognized by CaM in vivo but not in vitro.