31 posts found

Treatment options for respiratory problems in Rett syndrome

Respiratory problems, such as irregular breathing and apnea during resting and/or sleeping, are a common feature in patients with Rett syndrome (RTT). Three studies here outlined describe three different approaches to these problems and present encouraging results. The first article describes the results obtained using a serotonin receptor agonist, whose commercial name is Sarizotan, in […]

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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 […]

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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. […]

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