• Genetics: RTT is an X-linked neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene.
  • Phenotypic Variability: Includes classical and atypical forms, with overlapping features in autism spectrum disorders.
  • Challenges in Therapy:
    • High genetic and clinical variability.
    • Imperfect genotype-phenotype correlations.
    • Multifunctionality of MeCP2 protein complicates targeting.
To read more, a subscription is needed: Click here to subscribe