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Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability - 1st Edition - ISBN: 9780128001097, 9780128005330

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

1st Edition

Editors: Carlo Sala Chiara Verpelli
Hardcover ISBN: 9780128001097
eBook ISBN: 9780128005330
Imprint: Academic Press
Published Date: 30th April 2016
Page Count: 394
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Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability 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.

Key Features

  • 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
  • Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture


Graduate and undergraduate students in neuroscience and biomedical sciences, researchers new to the field, and post-doctoral fellows and clinicians seeking a resource on synaptic dysfunction in autism spectrum disorder

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


No. of pages:
© Academic Press 2016
30th April 2016
Academic Press
Hardcover ISBN:
eBook ISBN:

About the Editors

Carlo Sala

Carlo Sala

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.

Affiliations and Expertise

CNR Institute of Neuroscience, Milano, Italy

Chiara Verpelli

Chiara Verpelli

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.

Affiliations and Expertise

CNR Institute of Neuroscience, Milano, Italy

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