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

The syndrome caused by mutations in the NRROS gene is a neurodegenerative disorder characterized by normal or mildly delayed early development, followed by refractory infantile-onset seizures, with subsequent developmental regression. Brain scans reveal reduced white matter volume with delayed myelination, as well as intracranial calcification.

Not all individuals with a mutation in the NRROS 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 NRROS gene.

John Christodoulou, MB, BS, PhD, FRACP, FRCPA, Murdoch Children’s Research Institute, Melbourne, Australia, john.christodoulou@mcri.edu.au

Sue White, MBBS, FRACP, Victorian Clinical Genetics Service, Melbourne, Australia, sue.white@vcgs.org.au