Reference: 2_Dr. S. Russian – Laboratory of Medical Genetics Institute Auxologico Milan Abstract: At the laboratories of the Institute of Molecular Genetics Auxologico Italian since 2001 is carried out diagnostics and research on Rett Syndrome. Over the years we have collected a series of 97 patients with a genetic defect known and many without defined … Read more
Reference: 3_Dr. Vignoli, Dr. La Briola Abstract: Knowledge in the medical field of psycho-physical condition of people with Rett syndrome in adulthood is still very poor. A good knowledge of medical issues, typical of adulthood in these girls and the possibility of preventing them, are key to the “loading” of patients and their families. Objectives … Read more
Reference: Amendola, Elena Abstract: Rett syndrome is a neurodevelopmental disorder most commonly caused by mutations in the MECP2 gene. However, some persons with Rett do not carry mutations in MECP2 and recently mutations in the cyclin dependent kinase-like 5 (CDKL5) gene have been found in persons having a Rett-like disorder that includes seizures during the … Read more
Reference: 5_M.ﾠPintaudi, Abstract: Rett syndrome (SR) is a rare disease that affects about 1/10000-15000 girls. Although epilepsy is present in about 80% of these patients, clinical studies investigating the characteristics of the crisis and the use and effectiveness of anti-epileptic drugs are scarce. The study aims to: Clinical study of epilepsy in the SR, the … Read more
Reference: P09-CTS-4610 Abstract: n.a PROJECT DETAILS beginning: 2010. end: 2014. Country of research: Spain Counry of funding source: Spain Funding organization: Junta de Andaluc�a (Regional Ministry of Innovation, Science and Business) Financing: NATIONAL FUNDINGS – 178 671 € hyperlink
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