Neuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability edited by Carlo Sala and Chiara Verpelli

Includes bibliographical references and index.

List of contributors -- Preface -- Acknowledgments. I Autism spectrum disorders and intellectual disability: genetic and non-genetic causes : Experimental tools for the identification of specific genes in autism spectrum disorders and intellectual disability / Yiping Shen and Xiaohong Gong -- Genetic causes of autism spectrum disorders / Guillaume Huguet and Thomas Bourgeron -- Genetics of X-linked intellectual disability / Charles E. Schwartz and Luigi Boccuto -- Genetic causes of intellectual disability: the genes controlling cortical development / Yoann Saillour and Jamel Chelly -- Immune dysfunction in autism spectrum disorder / Natalia V. Malkova and Elaine Y. Hsiao. 2 Function of mutated genes in intellectual disability (ID) and autism : Synapse proteomes and disease: the MASC paradigm / Alex Bayés and Seth G.N. Grant -- The function of MeCP2 and its causality in Rett Syndrome / Janine M. Lamonica and Zhaolan Zhou -- FMRP and the pathophysiology of fragile X syndrome / Stephanie A. Barnes, Sophie R. Thomson, Peter C. Kind, and Emily K. Osterweil -- X-linked ASDs and ID gene mutations / Edoardo Moretto, Maria Passafaro, and Silvia Bassani -- SHANK mutations in intellectual disability and autism spectrum disorder / Michael J. Schmeisser and Chiara Verpelli -- Mutations in synaptic adhesion molecules / Jaewon Ko, Caterina Montani, Eunjoon Kim, and Carlo Sala -- CNTNAP2 mutations in autism / Olga Peñagarikano -- Planar cell polarity gene mutations in autism spectrum disorder, intellectual disabilities, and related deletion/duplication syndromes / Nathalie Sans, Jérôme Ezan, Maïté M. Moreau, and Mireille Montcouquiol -- Protocadherin mutations in neurodevelopmental disorders / Duyen Pham, Chuan Tan, Claire Homan, Lachlan jolly, and Jozef Gecz -- Mutations of voltage-gated sodium channel genes SCN1A and SCN2A in epilepsy, intellectual disability, and autism / Kazuhiro Yamakawa -- Oxytocin in the developing brain: relevance as disease-modifying treatment in autism spectrum disorders / Bice Chini, Marianna Leonzino, and Valentina Gigliucci. 3 Experimental models, clinical and pharmacological aspects of major ASDS, and intellectual disability syndromes : Mouse behavior and models for autism spectrum disorders / Laura Ricceri, Caterina Michetti, and Maria Luisa Scattoni -- The iPSC technology to study neurodevelopmental disorders / Alysson Renato Muotri -- Rett Syndrome: clinical aspects / Daniel C. Tarquinio and Alan K. Percy -- Fragile X syndrome / Anne Hoffmann and Elizabeth Berry-Kravis -- Phelan-McDermid Syndrome: clinical aspects / Katy Phelan, Luigi Boccuto, and Sara Sarasua -- Epilepsy associated with ASD and intellectual disability / Carla Marini. Index

The first edition of this text describes the function of the major genes associated to ASD and ID, and discusses the crucial role that neuronal development and synaptic activity play in proper brain function. This volume collects some of the major studies in the field of autism, highlighting genetic, molecular, and clinical aspects. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional neuronal and synaptic anomalies, and potentially ameliorate some ASD and ID symptoms. thus this book represents a strong reference and serves as a resource for scientists and clinicians in all biomedical science specialties