Description
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. Kevin J. Mitchell is an Associate Professor at the Smurfit Institute of Genetics and Institute of Neuroscience at Trinity College Dublin Foreword Kevin J. Mitchell 1. The Genetic Architecture of Neurodevelopmental Disorders Kevin J. Mitchell 2. Overlapping Etiology of Neurodevelopmental Disorders Eric Kelleher and Aiden Corvin 3. The Mutational Spectrum of Neurodevelopmental Disorders Nancy D. Merner, Patrick A. Dion and Guy A. Rouleau 4. The Role of Genetic Interactions in Neurodevelopmental Disorders Jason H. Moore and Kevin J. Mitchell 5. Developmental Instability, Mutation Load, and Neurodevelopmental Disorders Ronald A. Yeo and Steven W. Gangestad 6. Environmental Factors and Gene-Environment Interactions John McGrath 7. The Genetics of Brain Malformation M. Chiara Manzini and Christopher A. Walsh 8. Disorders of Axon Guidance Heike Blockus and Alain Chdotal 9. Synaptic Disorders Catalina Betancur and Kevin J. Mitchell 10. Human Stem Cell Models of Neurodevelopmental Disorders Peter Kirwan and Frederick J. Livesey 11. Animal Models for Neurodevelopmental Disorders Hala Harony-Nicolas and Joseph D. Buxbaum 12. Cascading Genetic and Environmental Effects on Development: Implications for Intervention Esha Massand and Annette Karmiloff-Smith 13. Human Genetics and Clinical Aspects of Neurodevelopmental Disorders Gholson J. Lyon and Jason O’Rawe 14. Progress Toward Therapies and Interventions for Neurodevelopmental Disorders Ayokunmi Ajentunmobi and Daniela Tropea
