Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2‐allelic disorders

Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2‐allelic disorders

Abstract Objective Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under‐ and overexpression of MECP2, respectively. Preclinical studies using genetic‐based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vic...

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Main Authors: Davut Pehlivan, Chengjun Huang, Holly K. Harris, Christine Coquery, Aditya Mahat, Mirjana Maletic‐Savatic, Laurence Mignon, Sukru Aras, Daniel G. Glaze, Charles S. Layne, Leonardo Sahelijo, Huda Y. Zoghbi, Matthew J. McGinley, Bernhard Suter
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.52269
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