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: 4_ﾠDr. V.ﾠCarmine Abstract: The nutritional problems in the context of complex neurological conditions, involving different aspects, behavioral and neurological dysfunctions oromotorie closely. These include oropharyngeal dysfunction, sensory deficits, reduced mobility of the tongue, difficulty in chewing and swallowing food, in fact a reduced tone of the muscles of the head and neck may cause … 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: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosomeﾠRett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women.ﾠThe causative gene is Mecp2 encoding a multifunctional protein … Read more
Reference: Abstract: Aims Rett syndrome (RTT) is a rare neurodevelopmental disorder frequently linked to methyl-CpG-binding protein 2 (MeCP2) gene mutations. RTT is associated with a 300-fold increased risk of sudden cardiac death. Rhythm abnormalities and cardiac dysautonomia do not to fully account for cardiac mortality. Conversely, heart function in RTT has not been explored to … Read more
By continuing to use the site, you agree to the use of cookies. more information
The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.
