This website provides information on patients with mutations in the Glycosylphosphatidylinositol anchor attachment 1 (GPAA1) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the GPAA1 gene is called Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) and is a multisystem disorder characterized by early-onset seizures, hypotonia, global developmental delay, osteopenia, and cerebellar atrophy. Not all individuals with a mutation in the GPAA1 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 GPAA1 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.