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 […]
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Posts with tag 'gene therapy'
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. […]