This website provides information on patients with mutations in the Phosphatidylinositol Glycan Anchor Biosynthesis Class C (PIGC) gene, including clinical data, molecular data, and management and research options.
The syndrome caused by mutations in the PIGC gene is called Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) and is a multisystem disorder characterized by epilepsy, severe global development delay and severe intellectual disability. Not all individuals with a mutation in the PIGC 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 PIGC gene.
Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, firstname.lastname@example.org
Coralie Michaud, MD, University of Montreal, Montreal, Canada, email@example.com
In collaboration with Drs Yoshiko Murakami, Taroh Kinoshita, Peter Krawitz and Allan Bayat.