This website provides information on patients with mutations in the phosphatidylinositol glycan class B (PIGB) gene, including clinical data, molecular data, management, and research options.
The syndrome caused by mutations in the PIGB gene is called developmental and epileptic encephalopathy 80 (DEE80) and is a multisystem disorder characterized by global developmental and/or intellectual delay, early onset epilepsy, and axonal neuropathy. Not all individuals with a mutation in the PIGB 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 PIGB gene.
Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, email@example.com
Coralie Michaud, MD, University of Montreal, Montreal, Canada, firstname.lastname@example.org
In collaboration with Drs Yoshiko Murakami, Taroh Kinoshita, Peter Krawitz and Allan Bayat.