The Genetics of Neurodevelopmental Disorders

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  • Edition: 1st
  • Format: Hardcover
  • Copyright: 2014-07-01
  • Publisher: Wiley-Blackwell

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Neurodevelopmental disorders cover a wide range of diseases and impairments that include developmental and intellectual disabilities, some forms of epilepsy, autism spectrum disorders and neurophysiatric disease. The Genetics of Neurodevelopmental Disorders takes an innovative approach to the many recent advances in our understanding of the genetic architecture of these disorders. The book explores both basic discoveries and the translation of new findings into the clinical setting.

The Genetics of Neurodevelopmental Disorders opens with six chapters that look at broad conceptual issues that are relevant to understanding neurodevelopmental disorders. From there, chapters present our current understanding of disorders grouped by the impacted neurodevelopmental process. The following section looks at the elucidation of pathogenic mechanisms following genetic discoveries. The book then closes with two chapters that consider the clinical implications of the recent advances in the field.

A timely synthesis of the field, The Genetics of Neurodevelopmental Disorders, promises to be an essential resource for neuroscientists, neurologists, and neuropsychiatric researchers, and advanced students.

Table of Contents

Foreword (Kevin Mitchell):
-What is a neurodevelopmental disorder?
-Overview of major concepts/topics covered

 1. Overview of genetic architecture (Kevin Mitchell)
     a. Mendelian vs “complex” disorders
     b. Genetic heterogeneity
     c. Known vs idiopathic
     d. Common and rare mutations
     e. Polygenic vs monogenic or oligogenic
     f. Maternal effect

 2. Overlapping etiology (Mike Owen)
     a. Intellectual disability – autism – SZ – epilepsy, etc.

 3. The mutational spectrum (Evan Eichler)
     a. De novo vs inherited
     b. Point mutations, CNVs, translocations
     c. Allelic specificity
     d. Dominant vs recessive

 4. Genetic modifiers / genomic context (David Goldstein)
      a. Phenotypic variability
      b. Oligogenic interactions
      c. Sex effects

  5. Genetic networks/systems: (Andreas Wagner)
      a. Robustness and fragility
      b. Dosage sensitivity
      c. Allele frequency
      d. Balancing selection
      e. Cryptic genetic variation

 6. Environmental factors (John McGrath)
     a. Epidemiology
     b. Gene-environment interactions

  7. Brain malformations (Chris Walsh)
      a. Proliferation
      b. Patterning
      c. Cell migration

  8. Ciliopathies (Joe Gleeson)
      a. Joubert syndrome
      b. Bardet-Biedl syndrome
      c. etc.

 9. Disorders of axon guidance (Elizabeth Engle)
     a. Various conditions

 10. Disorders of the synapse (Thomas Bourgeron)
       a. Synapse formation
       b. Synaptic plasticity

 11. Metabolic disorders (Tony Futerman)
       a. Lysosomal storage
       b. Various other conditions.

12. Cellular models (Pierre Vanderhaeghen)
      a. Induced pluripotent stem cell
      b. Generating neurons
      c. Analysing phenotypes

13. Animal models (Joseph Gogos)
      a. Recapitulating human alleles
      b. Genetic background/modifiers
      c. From genetic to neural mechanisms
      d. Phenotypic convergence on pathophysiological states

 14. Cascading effects (Annette Karmiloff-Smith)
       a. How phenotype shapes environment and experience
       b. Emergent phenotypes
       c. Opportunities for intervention

 15. Genetic diagnoses / clinical genetics (James Lupski)
       a. Current ability / approaches
       b. Technical/ethical issues
       c. Risk to siblings
       d. Implications for acceptance, prognosis and treatment
       e. Prenatal diagnosis, preimplantation genetic diagnosis/screening

 16. Towards therapies and interventions (Mark Bear)
       a. Correction vs compensation
       b. E.g., Fragile X
       c. Identification of high-risk individuals
       d. Non-medical interventions (e.g., ABA)

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