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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Posts with tag 'public'
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 […]
A gene therapy approach for the Rett Syndrome
The gene therapy is likely to become an important tool in the fight against pediatric rare diseases, especially those derived by the alteration of one single gene. This is the case of the Rett Syndrome (RTT), caused by the loss of function of MECP2, a gene involved in the control of the transcription of different […]
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. […]
The big challenge of the brain circuits
One of the most complicated and fascinating challenges for the neuroscientists is how to link the architecture, the wiring and the electric messages of the neuronal circuits to our behavior and emotions. To date, the desire of understanding this correspondence is simply unrealistic: the reason lies in numbers. 302: is the number of neurons that […]
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