@article{bhat:hal-04532526,
TITLE = {Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation},
AUTHOR = {Bhat, Shreyas and Rousseau, Justine and Michaud, Coralie and Marques Louren{\c c}o, Charles and Stoler, Joan M. and Louie, Raymond J and K. Clarkson, Lola and Lichty, Angie and Koboldt, Daniel C. and C. Reshmi, Shalini and Sisodiya, Sanjay M and M.M. Hoytema van Konijnenburg, Eva and Koop, Klaas and Hasselt, Peter M. Van and Demurger, Florence and Dubourg, Christ{\`e}le and R. Sullivan, Bonnie and S. Hughes, Susan and Thiffault, Isabelle and Simard Tremblay, Elisabeth and Accogli, Andrea and Srour, Myriam and Blunck, Rikard and Campeau, Philippe},
URL = {https://hal.science/hal-04532526},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
YEAR = {2024},
DOI = {10.1016/j.ajhg.2024.02.014},
KEYWORDS = {KCNB2 ; channel inactivation ; neurodevelopmental disorders ; voltage-gated potassium channels ; dysmorphism ; epilepsy ; global developmental delay},
HAL_ID = {hal-04532526},
HAL_VERSION = {v1},
}