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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

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Reference: RES-145-28n.a.003 Abstract: We aimed to improve the understanding of genotypeﾖphenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions ﾖ separating typicality of presentation, outcome severity and age of onset ﾖ and by classifyingﾠMECP2ﾠmutations strictly by predicted functional attributes.ﾠMECP2ﾠmutation screening results were available on 190 patients with a clinical … Read more

Early onset seizures and Rett-like features associated with mutations in CDKL5

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Reference: RES-145-28-1003 Abstract: Mutations in theﾠCDKL5ﾠgene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients withﾠCDKL5ﾠmutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened theﾠCDKL5ﾠgene in 94 patients with RTT or a RTT-like phenotype who … Read more

Double dose against rare diseases

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Reference: Abstract: Recently, two teams from CNRS have reported encouraging results in the fight against two rare diseases: “children of the moon” and Rett syndrome. PROJECT DETAILS  beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: National Center for Scientific Research Financing: NATIONAL FUNDINGS – 0 € hyperlink

From Synaptopathies to System Dysfunction

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Reference: Subproject to FZT 103 Abstract: This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ﾠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 … Read more

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