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

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 TremblayAndrea Accogli, Myriam Srour, Rikard Blunck^*, Philippe M. Campeau^*

^*Corresponding author for this work

Metabolic diseases patient care
Department of Genetics
Child Health
Infection & Immunity

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

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Neuroscience

Biochemistry, Genetics and Molecular Biology