15 posts found

Rett syndrome: an over-50-years journey

In 1966, an Austrian neurologist named Andreas Rett first described more than 20 young female patients which shared similar characteristics, starting from the observation of identical stereotypic hand movements. In 1983, the Swedish pediatrician Bengt Hagberg gave for the first time the name of Rett syndrome (RTT) to the symptoms he detected in a group […]

Continue reading


STXBP1 protein as a therapeutic target for Epileptic Encephalopathy

The epileptic encephalopathies (EEs) are characterized by frequent seizures and cognitive and behavioral impairment. The presence of the mental handicap is a signal that the EEs origin during the neuronal development, so that, even if the seizure can be controlled by using available anti-epileptic drugs, the cognitive impairment cannot be stopped with the current treatments. […]

Continue reading


Genetic strategies to repair brain circuits with altered MECP2

The Rett syndrome (RTT) and the Autism Spectrum Disorder (ASD) are neurodevelopmental disorders which, although presenting different symptoms and evolution, are linked by a common factor: mutations in the same gene, called MECP2. But the answers on how and why the same gene could have a key role in the development of both diseases have […]

Continue reading


The MECP2 gene and its role in the Rett syndrome

The Rett syndrome (RTT) is a neurological disorder caused by mutations which occur in the gene MECP2 (methyl-CpG-binding protein 2). This gene is located on the X chromosome, and the RTT affects only females – 1 every 10,000 – because the mutation of MECP2 in males is not viable. However, some isolated cases of boys […]

Continue reading


Page 1 of 3