Rett syndrome from bench to bedside: recent advances
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Updated: Feb 12, 2026

A Bedside, Single Burr Hole Approach to Multimodality Monitoring in Severe Brain Injury
Published on: March 26, 2019
Yann Ehinger1, Valerie Matagne1, Laurent Villard1
1Aix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
Abstract:
Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to correct symptoms to more innovative approaches intended to cure the pathology.
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