Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M Stoler, Raymond J Louie, Lola K Clarkson, Angie Lichty, Daniel C Koboldt, Shalini C Reshmi, Sanjay M Sisodiya, Eva M M Hoytema van Konijnenburg, Klaas Koop, Peter M van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie R Sullivan, Susan S Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, Philippe M Campeau
Ion channels mediate voltage fluxes or action potentials that are central to the functioning of excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) consists of two members (KCNB1 and KCNB2) encoded by KCNB1 and KCNB2, respectively. These channels are major contributors to delayed rectifier potassium currents arising from the neuronal soma which modulate overall excitability of neurons. In this study, we identified several mono-allelic pathogenic missense variants in KCNB2, in individuals with a neurodevelopmental syndrome with epilepsy and autism in some individuals...
March 13, 2024: American Journal of Human Genetics