2010.

Molecular pathology and functional interactions of the genes CDKL5 and MECP2: molecular and clinical consequences of the alteration of a neuro-biological networks

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Reference: Universit? degli Studi dell’Insubria Abstract: n.a PROJECT DETAILS  beginning: 2010. end: 2011. Country of research: Italy Counry of funding source: Italy Funding organization: Fondazione Caripl Financing: PRIVATE FUNDERS – 260 000 € hyperlink

Creating an experimental modelreproducing a pathogenic mutation of MeCP2

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Reference: Project3 Abstract: Objective: the majority of animal models of the syndrome Rett available today represent only part of what that actually happens in patients, because most patients are not deprived of the entire gene, but only a small portion of it, or even have change only one amino acid. This project has set itself … Read more

Sleep disorders in Rett syndrome: a clinical study – polysomnography.

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Reference: 11_ Vignoli Abstract: The girls with RS, in analogy to what happens in other conditions of neurological disability, frequently have sleep disorders, mainly investigated through the use of questionnaires, being affected by specific sleep abnormalities characterized by intrusion of behavioral episodes such as laughing or screaming, sonniloquio, sleepwalking, bruxism and night terrors. There are … Read more

Analysis of HLA genes to assess genetic susceptibility to vaccines as part of the pathogenesis of Rett syndrome.

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Reference: 5 Abstract: The acute phase of regression (6-12 months) of Rett syndrome coincides with the period of childhood vaccinations. Data that come both from our own experience and from the literature indicate that different RTT girls were initially classified as suffering from encephalopathy for damage caused by the vaccine (Moeschler JB, et al, 1988) … Read more

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