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Lookup NU author(s): Dr Abhishek Banerjee
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© The Author(s) (2019).With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. Rett syndrome features an interesting challenge for biologists and clinicians, as the disorder lies at the intersection of molecular mechanisms of epigenetic regulation and neurophysiological alterations in synapses and circuits that together contribute to severe pathophysiological endophenotypes. Genetic, clinical, and neurobiological evidences support the notion that Rett syndrome is primarily a synaptic disorder, and a disease model for both intellectual disability and autism spectrum disorder. This review examines major developments in both recent neurobiological and preclinical findings of Rett syndrome, and to what extent they are beginning to impact our understanding and management of the disorder. It also discusses potential applications of knowledge on synaptic plasticity abnormalities in Rett syndrome to its diagnosis and treatment.
Author(s): Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE
Publication type: Article
Publication status: Published
Journal: Brain
Year: 2019
Volume: 142
Issue: 2
Pages: 239-248
Print publication date: 01/02/2019
Online publication date: 12/01/2019
Acceptance date: 31/10/2018
ISSN (print): 0006-8950
ISSN (electronic): 1460-2156
Publisher: Oxford University Press
URL: https://doi.org/10.1093/brain/awy323
DOI: 10.1093/brain/awy323
PubMed id: 30649225
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