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Book sections
Synaptic disorders
Abstract : Mutations in many genes encoding proteins involved in various aspects of synapse formation and function have been implicated in specific neurodevelopmental syndromes. More recent findings show that this class of genes more generally represents a major mutational target for common neurodevelopmental and neuropsychiatric disorders, including intellectual disability, autism, schizophrenia and epilepsy. Synaptic genes have thus become a focus of research on neurodevelopmental disorders, contributing to our understanding of disease pathogenesis and providing promising therapeutic targets. Here, we consider the molecular processes of synapse formation and plasticity and how mutations in many genes with distinct functions in these processes lead to neurodevelopmental disorders.
Keywords :
intellectual disability
autism spectrum disorder
neuropsychiatric disorders
neurodevelopmental disorders
ion channels
schizophrenia
epilepsy
copy number variation
whole exome sequencing
synaptic proteins
cell adhesion molecules
scaffolding proteins
chromatin regulators
transcription factors
neurotransmitter receptors
https://www.hal.inserm.fr/inserm-01181037
Contributor : Catalina Betancur Connect in order to contact the contributor
Submitted on : Tuesday, July 28, 2015 - 6:39:06 PM
Last modification on : Thursday, December 10, 2020 - 10:55:02 AM
Long-term archiving on: : Thursday, October 29, 2015 - 11:10:19 AM
Contributor : Catalina Betancur Connect in order to contact the contributor
Submitted on : Tuesday, July 28, 2015 - 6:39:06 PM
Last modification on : Thursday, December 10, 2020 - 10:55:02 AM
Long-term archiving on: : Thursday, October 29, 2015 - 11:10:19 AM