title: The neural circuit basis of Rett syndrome.
abstract: Rett syndrome is an Autism Spectrum Disorder caused by mutations in the gene encoding methyl-CpG binding protein (MeCP2). Following a period of normal development, patients lose learned communication and motor skills, and develop a number of symptoms including motor disturbances, cognitive impairments and often seizures. In this review, we discuss the role of MeCP2 in regulating synaptic function and how synaptic dysfunctions lead to neuronal network impairments and alterations in sensory information processing. We propose that Rett syndrome is a disorder of neural circuits as a result of non-linear accumulated dysfunction of synapses at the level of individual cell populations across multiple neurotransmitter systems and brain regions.
authors.affiliation: Department of Genetics, University of Pennsylvania School of Medicine, 450 Clinical Research Building, 415 Curie Boulevard, Philadelphia, PA 19104, USA.
authors.forename: Darren
authors.initials: D
authors.lastname: Goffin
authors.affiliation: Department of Genetics, University of Pennsylvania School of Medicine, 450 Clinical Research Building, 415 Curie Boulevard, Philadelphia, PA 19104, USA.
authors.forename: Zhaolan Joe
authors.initials: ZJ
authors.lastname: Zhou
keywords: ERP; MeCP2; Rett syndrome; neural circuit; synapse