This website provides information on patients with mutations in the PTPN23 gene, including clinical data, molecular data, management and research options.

Mutations in the PTPN23 gene cause an autosomal recessive form of developmental and epileptic encephalopathy (DEE) characterized by brain atrophy, global developmental delay, intractable seizures, and early death.

This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the PTPN23 gene.

Fowzan S Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Helly Goez, MD, FRCPC, Pediatric Neurologist, Developmental Pediatrician, Edmonton Clinic Health Academy / Assistant Dean, Diversity, Faculty of Medicine and Dentistry, University of Alberta / Director, Neurometabolic Clinic Stollery Children Hospital, Glenrose Rehabilitation Hospital / Director, Pediatric Movement Disorder Clinic, Glenrose Rehabilitation Hospital, Alberta, Canada

Jannette Mailo, MD, PhD, Pediatric Neurologist at Stollery Children’s Hospital and Glenrose Rahabilitation Hospital, University of Alberta, Alberta, Canada, jmailo@ualberta.ca

Fadie D Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, Riyadh, Saudi Arabia, faltuame@alfaisal.edu