Editorial Team

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

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Reference: Abstract: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype. Although the involvement of CDKL5 in specific biological pathways and its neurodevelopmental role have not … Read more

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

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Reference: Abstract: Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the … Read more

The version of Rolando

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Reference: Abstract: Defined as a neurodevelopmental disorder that affects specific maturational processes of nerve cells, the Rett syndrome (RTT) results in impaired brain development and a consequent severe deficiency of the organism.ﾠThe etiology of the syndrome is due to the alteration of the MECP2 gene or other genes linked to it, located on chromosome X.ﾠThis … Read more

The congenital variant of Rett syndrome: clinical description and the autonomic nervous system

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Reference: Abstract: Introduction.ﾠRett syndrome (RTT) is a neurodevelopmental disorder, which is characterized by congenital variant early psychomotor retardation, hypotonia, abnormal EEG, typical absence of initial asymptomatic period.ﾠMaterials and methods.ﾠSample of 7 children with congenital variant of RTT afferite to “regional reference center of Rett Syndrome” Versilia Hospital and the University of Ferrara from 2006 to … Read more

Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil

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Reference: Abstract: Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various … Read more

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