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Title Neuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability / edited by Carlo Sala, Chiara Verpelli
Published London, UK : Academic Press is an imprint of Elsevier, 2016
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Description 1 online resource
Contents Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability -- Genetic Causes of Autism Spectrum Disorders -- Genetics of X-Linked Intellectual Disability -- Genetic Causes of Intellectual Disability: The Genes Controlling Cortical Development -- Immune Dysfunction in Autism Spectrum Disorder -- Synapse proteomes and disease: The MASC paradigm -- THe function of MeCP2 and its causality in Rett Syndrome -- FMRP and the pathophysiology of fragile x syndrome -- X-linked ASDs and ID gene mutations -- SHANK mutations in intellectual disability and autism spectrum disorder -- Mutations in synaptic adhesion molecules -- CNTNAP2 mutations in autism -- Planar cell polarity gene mutations in autism spectrum disorder, intellectual disabilities, and related deletion/duplication syndromes -- Protocadherin mutations in neurodevelopmental disorders -- Mutations of voltage-gated sodium channel genes SCN1A and SCN2A in epilepsy, intellectual disability, and autism -- Oxytocin in the developing brain: relevance as disease-modifying treatment in autism spectrum disorders -- Mouse behavior and models for autism spectrum disorders -- The iPSC technology to study neurodevelopmental disorders -- Rett syndrome: clinical aspects -- Fragile X syndrome -- Phelan-McDermid syndrome: clinical aspects -- Epilepsy associated with ASD and intellectual disability -- Index
Summary Provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities. Describes the genes implicated in autistic spectrum disorders and their function. Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies
Notes Online resource; title from PDF title page (ScienceDirect, viewed May 19, 2016)
Subject Autism spectrum disorders -- Genetic aspects.
Nervous system -- Degeneration -- Genetic aspects.
Autism Spectrum Disorder -- genetics.
Form Electronic book
Author Sala, Carlo, Dr., editor
Verpelli, Chiara, editor
ISBN 0128001097 (Trade Cloth)
0128005335 (electronic bk.)
9780128001097 (Trade Cloth)
9780128005330 (electronic bk.)
(print)