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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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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 […]

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New roles of microglia in brain pathophysiology

Microglia cells represent, depending on the species, from 5% to 20% of the glial cells in the adult brain. It is commonly accepted that microglia precursors originate in the yolk sac – as the tissue specific macrophages – although their identity has not been confirmed so far. Once the development of the blood-brain barrier is […]

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Anti-inflammatory drugs can reverse synaptic defects

Inflammation modifies risk and/or severity of a variety of brain diseases through still elusive molecular mechanisms. Tomasoni et al. (open access article available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370184/) show that hyperactivation of the interleukin 1 pathway, through either removal of the interleukin 1 receptor 8 (IL-1R8,) or activation of IL-1R, leads to up-regulation of the mTOR pathway and […]

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