Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

In this study, we identify 10 variants in KCNB2 in individuals with neurodevelopmental disorders. Our data suggest that most KCNB2 variants show reduced potassium conductance due to either reduced functional expression or increased channel inactivation.

Source: The American Journal of Human Genetics - March 18, 2024 Category: Genetics & Stem Cells Authors: Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Louren ço, 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 Tags: Article Source Type: research