This website provides information on patients with mutations in the KCNB2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mostly de novo mutations in the KCNB2 gene is characterized by neurodevelopmental disorders with all individuals exhibiting developmental delay and most presenting intellectual disability and various facial dysmorphisms. Epilepsy, mild autistic traits, hand abnormalities, synophrys and ADHD may also be observed although they do not occur in all individuals with pathogenic mutation in KCNB2 gene.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KCNB2 gene.

Philipe Campeau, MD, Department of Pediatrics, Université de Montréal, Montréal, Canada, p.campeau@umontreal.ca

Rikard Blunck, PhD, Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, Canada, rikard.blunck@umontreal.ca

Shreyas Bhat, PhD, Department of Physics, Université de Montréal, Montréal, Canada, shreyas.bhat@umontreal.ca