This website provides information on patients with mutations in the CAMK2B gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the CAMK2B gene is called autosomal dominant 54 mental retardation (OMIM # 617799). It is a multisystem disorder characterized by global developmental delay with shared characteristics including mild to severe intellectual disability, motor and speech delay, frequently associated with behavioural problems and possible seizures. Not all individuals with a mutation in the CAMK2B gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CAMK2B gene.
Sébastien Küry, D.V.M., Ph.D., CHU de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France, firstname.lastname@example.org
Geeske van Woerden, Ph.D., Department of Neuroscience, Erasmus MC, P.O. Box 2040, NL-3000 CA, Rotterdam, The Netherlands, email@example.com
Sandra Mercier, M.D., Ph.D., CHU de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France, firstname.lastname@example.org