This website provides information on patients with mutations in the Phosphatidylinositol glycan class K (PIGK) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PIGK gene is called Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) and is a multisystem disorder characterized by neurodevelopmental disorder with hypotonia, cerebellar atrophy and epilepsy. Not all individuals with a mutation in the PIGK 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 PIGK 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.