This website provides information on patients with mutations in the MECP2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the MECP2 gene is a multisystem disorder characterized by regression of acquired skills including language and purposeful hand use. Additional symptoms include seizures, stereotypic hand movements, breathing abnormalities, scoliosis, and cognitive impairment. Not all individuals with a mutation in the MECP2 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 MECP2 gene.

Prof. Dr. Pınar Topaloğlu, MD, Paediatric Neurology Division, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, pinartopaloglu2000@yahoo.com, pinar.tekturk@istanbul.edu.tr