Neuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability / / Carlo Sala, Chiara Verpelli

• Record Nr.: UNINA9910829069603321
• Autore: Sala Carlo
• Pubbl/distr/stampa: Amsterdam, Netherlands : , : Academic Press, , 2016; ©2016
• ISBN: 0-12-800533-5
• Descrizione fisica: 1 online resource (396 p.)
• Disciplina: 618.9285882
• Soggetti: Autism in children - Diagnosis; Autism in children - Treatment; Autism Spectrum Disorder - genetics; Neurodegenerative Diseases - genetics
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references at the end of each chapters and index.
• Nota di contenuto: Front Cover; NEURONAL AND SYNAPTIC DYSFUNCTION IN AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY; Series page; NEURONAL AND SYNAPTIC DYSFUNCTION IN AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY; Copyright; Contents; List of Contributors; Preface; Acknowledgments; I - 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 Disab ...; POSITIONAL MAPPING; Linkage Mapping; Balanced Translocation Breakpoint Mapping; Autozygosity Mapping; CANDIDATE GENE APPROACHCOPY NUMBER VARIATIONS; Genome-wide CNV Detection Methods; Targeted CNV Detection Methods; NEXT-GENERATION SEQUENCING; Next-Generation Sequencing Platforms; Whole-Genome Sequencing Studies in ID and ASD; Exome Sequencing in ID and ASD; CONCLUSION; References; 2 - Genetic Causes of Autism Spectrum Disorders; INTRODUCTION; TWIN AND FAMILY STUDIES IN ASD; FROM CHROMOSOMAL REARRANGEMENTS TO COPY NUMBER VARIANTS IN ASD; FROM CANDIDATE GENES TO WHOLE EXOME/GENOME SEQUENCING STUDIES IN ASD; COMMON VARIANTS IN ; ASD; THE GENETIC ARCHITECTURE OF ASD; BIOLOGICAL PATHWAYS ASSOCIATED WITH ASDPERSPECTIVES; Acknowledgments; References; 3 - Genetics of X-Linked Intellectual Disability; INTRODUCTION; HISTORY OF XLID; CLASSIFICATION OF XLID; Syndromal XLID; Nonsyndromal XLID; Genotype-Phenotype Correlation: Redefining XLID; DISEASE MECHANISMS; Presynaptic Vesicle Cycling and Transport; Cytoskeletal Dynamics; Cell-Adhesion and Transsynaptic Signaling; Translational Regulation, Protein Degradation, and Turnover; FUTURE CHALLENGES AND THERAPEUTIC APPROACHES; References; 4 - Genetic Causes of Intellectual Disability: The Genes Controlling Cortical DevelopmentINTRODUCTION; DEVELOPMENT OF THE MAMMALIAN BRAIN CORTEX; GENETIC BASES OF CORTICAL MALFORMATIONS AND THEIR CONTRIBUTION TO BETTER UNDERSTANDING NORMAL CORTICAL DEVELOPMENT; Malformations Resulting From Abnormal Neurogenesis; Malformations Resulting From Neuronal Migration Defects; Malformations Thought to Be Related to Late Migration and/or Postmigrational Defects; Malformations Resulting From Pial Basement Membrane Defects: Type II Lissencephaly (or Cobblestone Lissencephaly); DISCUSSION; ID With Malformations of Cortical Development versus ID Without Apparent MalformationsMalformations of Cortical Development and ID: What Are the Perspectives to Reverse Cellular and Neurodevelopmental Defects?; Acknowledgments; References; 5 - Immune Dysfunction in Autism Spectrum Disorder; INTRODUCTION; IMMUNE ABNORMALITIES IN ASD; The Neuroimmune System; The Peripheral Immune System; Cellular Immunity; Blood Cytokines; Immunoglobulins; The Enteric Immune System; Neuroimmune Interactions; Peripheral Immune System-Brain Interactions; IMMUNE-RELATED SUSCEPTIBILITY FACTORS FOR ASD; Immune-Related Environmental Risk Factors