Reference: 4 Abstract: Rett syndrome (RTT) is a rare and complex factors for multiproblematicit? disabling. One of the main and most serious is the progressive loss of control of locomotor and gait, often affected by the presence of involuntary movements, dystonia, ataxia and spasticity. Only rarely treatment strategies used in the neuromotor pathologies infant may … Read more
Reference: 1 Abstract: The central hypothesis that there is a tendency to evaluate this project is that the mechanisms that regulate actin polymerization-dependent proteins of the ENA / VASP are able to modulate the effects of the mutation of MeCP2. In the case of positive results, then you might investigate whether a similar phenomenon also … Read more
Reference: 3 Abstract: Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that has an incidence of 1:10,000 people are female. Despite the identification of three genes involved (MECP2, CDKL5 and FOXG1), the pathogenesis of the syndrome is not known to date. The study presented here aims to: deepen the existing knowledge base of … 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.ļ¾ Pintaudi, 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
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