2008.

Epilepsy in Rett syndrome

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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

Training Project and collaboration with Dr. Meir Lotan * and an Italian team on rehabilitation in Rett Syndrome

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Reference: 7_Dr. M. Rodocanachi – Centre Don Calabria Milan. Abstract: On days 23-24 and 25 January 2009, at the Don Calabria Institute of Milan was held a meeting with Meir Lotan, specialist physiotherapist, Ph.D. at the University of Bergen – Norway, the Department of Master of Physiotherapy ‘ University of Tel Aviv. Work in Israel, … Read more

Study of the genetic differences between the classical form and the variant to preserved language of Rett Syndrome

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Reference: 1_Renieri Abstract: The preserved speech variant (Preserved Speech Variant, PSV) of Rett syndrome is characterized by a more favorable clinical course than the classical form (Zappella 1992). During the third stage, the PSV patients recover previously lost some skills: begin communicating with short sentences usually in the third person and observe an improvement in … Read more

Rett Disorder: The pre-regression period

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Reference: 325 Franz-Lanyar-Stiftung Abstract: n.a PROJECT DETAILS  beginning: 2007. end: 2008. Country of research: Austria Counry of funding source: Austria Funding organization: Franz-Lanyar-Stiftung, Graz, Austria Financing: PRIVATE FUNDERS – 1 200 € hyperlink

Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

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Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls. Significant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients. In recent years, we have developed a French consortium and determined the spectrum of mutations MECP2. We have shown that the four … Read more

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