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The Genetics of Neurodevelopmental Disorders
Kevin J. Mitchell (Edited by), KJ Mitchell (Author)
9781118524886, Wiley
Hardback, published 25 September 2015
368 pages
26.2 x 18.8 x 2.2 cm, 0.789 kg
Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.
List of Contributors vii Foreword 1 The Genetic Architecture of Neurodevelopmental Disorders 1 2 Overlapping Etiology of Neurodevelopmental Disorders 29 3 The Mutational Spectrum of Neurodevelopmental Disorders 49 4 The Role of Genetic Interactions in Neurodevelopmental Disorders 69 5 Developmental Instability, Mutation Load, and Neurodevelopmental Disorders 81 6 Environmental Factors and Gene–Environment Interactions 111 7 The Genetics of Brain Malformations 129 8 Disorders of Axon Guidance 155 9 Synaptic Disorders 195 10 Human Stem Cell Models of Neurodevelopmental Disorders 239 11 Animal Models for Neurodevelopmental Disorders 261 12 Cascading Genetic and Environmental Effects on Development: Implications for Intervention 275 13 Human Genetics and Clinical Aspects of Neurodevelopmental Disorders 289 14 Progress Toward Therapies and Interventions for Neurodevelopmental Disorders 319 Subject Index 345 Gene Index 353
Kevin J. Mitchell ix
Kevin J. Mitchell
Eric Kelleher and Aiden Corvin
Nancy D. Merner, Patrick A. Dion, and Guy A. Rouleau
Jason H. Moore and Kevin J. Mitchell
Ronald A. Yeo and Steven W. Gangestad
John McGrath
M. Chiara Manzini and Christopher A. Walsh
Heike Blockus and Alain Chédotal
Catalina Betancur and Kevin J. Mitchell
Peter Kirwan and Frederick J. Livesey
Hala Harony-Nicolas and Joseph D. Buxbaum
Esha Massand and Annette Karmiloff-Smith
Gholson J. Lyon and Jason O'Rawe
Ayokunmi Ajetunmobi and Daniela Tropea
Subject Areas: Biology, life sciences [PS]
