Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
1. Cover image - p. 1 2. Title page - p. 2 3. Table of Contents - p. 3 4. Copyright - p. 4 5. CME Accreditation Page - p. 5 6. Contributors - p. 6 7. Forthcoming Issues - p. 9 8. Foreword: Transformative Technologies and Understanding - p. 10 9. Preface: Pediatric Neurology in the Era of Genomics - p. 11 10. Genomic Variants and Variations in Malformations of Cortical Development - p. 12 11. Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes - p. 21 12. Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics - p. 30 13. Comparative Analysis of Self-Injury in People with Psychopathology or Neurodevelopmental Disorders - p. 37 14. Tuberous Sclerosis Complex - p. 45 15. Emerging Treatments for Pediatric Leukodystrophies - p. 52 16. Autoimmune Encephalopathies - p. 62 17. Advances in Tourette Syndrome - p. 72 18. Genetics of Pediatric Epilepsy - p. 80 19. Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy - p. 90 20. Spinal Muscular Atrophies - p. 101 21. Pediatric Charcot-Marie-Tooth Disease - p. 111 22. Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders - p. 122 23. Index - p. 130
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Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
1. Cover image - p. 1 2. Title page - p. 2 3. Table of Contents - p. 3 4. Copyright - p. 4 5. CME Accreditation Page - p. 5 6. Contributors - p. 6 7. Forthcoming Issues - p. 9 8. Foreword: Transformative Technologies and Understanding - p. 10 9. Preface: Pediatric Neurology in the Era of Genomics - p. 11 10. Genomic Variants and Variations in Malformations of Cortical Development - p. 12 11. Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes - p. 21 12. Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics - p. 30 13. Comparative Analysis of Self-Injury in People with Psychopathology or Neurodevelopmental Disorders - p. 37 14. Tuberous Sclerosis Complex - p. 45 15. Emerging Treatments for Pediatric Leukodystrophies - p. 52 16. Autoimmune Encephalopathies - p. 62 17. Advances in Tourette Syndrome - p. 72 18. Genetics of Pediatric Epilepsy - p. 80 19. Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy - p. 90 20. Spinal Muscular Atrophies - p. 101 21. Pediatric Charcot-Marie-Tooth Disease - p. 111 22. Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders - p. 122 23. Index - p. 130
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