This website provides information on the SCN2A-related disorders, including clinical data, molecular data, management and research options.
Gene changes (pathogenic variants) in the SCN2A gene can cause a number of different neurodevelopmental disorders, which vary in severity. Symptoms of SCN2A-related disorders can include epilepsy, developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and movement disorders including dystonia, chorea, ataxia and hypotonia. Not all individuals with a pathogenic variant in the SCN2A gene will have all these features.
This website was created to share and collect information about clinical management and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in the SCN2A gene.
Dr. Katherine Howell, MBBS (Hons) BMedSc FRACP PhD, Royal Children’s Hospital, Murdoch Children’s Research Institute, University of Melbourne, Florey Institute of Neurosciences and Mental Health, Melbourne, Australia, firstname.lastname@example.org
Dr. (Elizabeth) Emma Palmer, MBBS, BA (Hons) FRACP, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Sydney, Australia, email@example.com
A/Prof Michael Hildebrand, BBiomed Sci, BSc (Hons) PhD, University of Melbourne, Melbourne, Australia, firstname.lastname@example.org