This website provides information on patients with mutations in the SHANK3 gene, including clinical data, molecular data, management and research options.

Patients carrying mutations in the SHANK3 gene are characterized by intellectual disability (100%), autism (80%), hypotonia (75%) and epilepsy (>25%). SHANK3 mutations were also detected in rare cases of patients with bipolar disorders (BP) or schizophrenia (SCZ).

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 SHANK3 gene.

Thomas Bourgeron, PI, Institut Pasteur, Paris, France, thomas.bourgeron@pasteur.fr

Richard Delorme, MD, PhD, APHP, Paris, France, richard.delorme@aphp.fr

Gudrun A. Rappold, MD, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, gudrun_rappold@med.uni-heidelberg.de

Simone Berkel, MD, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Simone.Berkel@med.uni-heidelberg.de