Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Table of Contents

Part 1. Autism spectrum disorders and Intellectual disability: Genetic and Non-Genetic Causes 1. Experimental tools for the identification of specific genes in autism spectrum disorders and intellectual disability Yiping Shen and Xiaohong Gong 2. Genetic causes of autism spectrum disorders Guillaume Huguet and Thomas Bourgeron 3. Genetics of X-linked intellectual disability Luigi Boccuto and Charles E. Schwartz 4. Genetic causes of intellectual disability: the genes controlling cortical development Yoann Saillour and Jamel Chelly 5. Immune Dysfunction in Autism Spectrum Disorder Natalia V. Malkova and Elaine Y. Hsiao

Part 2. Function of Mutated Genes in Intellectual Disability (ID) and Autism 6. Synapse proteomes and disease: the MASC paradigm Àlex Bayés and Seth GN Grant 7. The Function of MeCP2 and its Causality in Rett Syndrome Janine Lamonica and Zhaolan Zhou 8. FMRP and the pathophysiology of fragile X syndrome Stephanie A. Barnes, Sophie R. Thompson, Peter C. Kind and Emily K. Osterweil 9. X-linked ASDs and ID gene mutations Edoardo Moretto, Maria Passafaro and Silvia Bassani 10. Shank3, Shank2, Shank1 mutations in ID and ASD Chiara Verpelli and Michael J. Schmeisser 11. Mutations in synaptic adhesion molecules Jaewon Ko, Caterina Montani, Carlo Sala and Eunjoon Kim 12. CNTNAP2 mutations in autism Olga Peñagarikano 13. Planar cell polarity (PCP) gene mutations in Autism Spectrum Disorder, Intellectual Disabilities and Related Deletion/Duplication Syndromes Nathalie Sans, Jérôme Ezan, Maité M. Moreau and Mireille Montcouquiol 14. Protocadherin mutations in neurodevelopmental disorders Duyen Pham, Chuan Tan, Claire Homan, Lachlan Jolly and Jozef Gécz 15. Mutations of voltage-gated sodium channel genes SCN1A and SCN2A in epilepsy, intellectual disability, and autism Kazuhiro Yamakawa 16. Oxytocin in the developing brain: relevance as disease-modifying treatment in autism spectrum disorders Bice Chini, Marianna Leonzino and Valentina a Gigliucci

Part 3. Experimental Models, Clinicaland Pharmacological Aspects of Major ASDs and Intellectual Disability Syndromes 17. Mouse Behaviour and Models for Autism Spectrum Disorders Maria Luisa Scattoni 18. The iPSC technology to study neurodevelopmental disorders Alysson Renato Muotri 19. Rett syndrome: clinical aspects Daniel Tarquinio and Alan K. Percy 20. Fragile-x syndrome Elizabeth Berry-Kravis and Anne Hoffmann 21. Phelan-McDermid syndrome: clinical aspects Katy Phelan, Luigi Boccuto and Sara Sarasua 22. Epilepsy associated with ASD and intellectual disability Carla Marini

Authors

Carlo Sala CNR Institute of Neuroscience, Milano, Italy. Dr. Carlo Sala is a Senior Researcher at the Neuroscience Institute within the National Research Council of Italy, and is also affiliated with Department of Biomedical Science and Translational Medicine at the University of Milano. He has previously edited a Synaptic Plasticity volume for Springer, and is author and co-author of over eighty peer-reviewed papers published in international scientific journals in the field of neuroscience. His laboratory is interested in understanding the function of various proteins which regulate neuronal synapse formation and plasticity, and their association with ASDs and intellectual disability. Among other valuable research contributions, his research group was the first to connect synapse function to mutations in SHANK genes, which are one of the most common genetic causes of autism. Chiara Verpelli CNR Institute of Neuroscience, Milano, Italy. Dr. Chiara Verpelli is affiliated with the Neuroscience Institute at the National Research Council of Italy, and is also affiliated with Department of Biomedical Science and Translational Medicine at the University of Milano. With interests in chemical and pharmacological technology as well, she has co-authored multiple papers in high-impact international scientific journals. Her research focus is to understand the genes involved in synapse development and function, and more recently the use of patient-specific stem cells to study neurodevelopmental diseases including ASD and intellectual disability.