This website provides information on patients with mutations in the Phosphatidylinositol glycan anchor biosynthesis, class P (PIGP) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PIGP gene is called Developmental and epileptic encephalopathy 55 (DEE55) and is a multisystem disorder characterized by early-onset refractory seizures, hypotonia, profound global developmental delay and severe intellectual disability. Not all individuals with a mutation in the PIGP 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 PIGP 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.