The genetics of neurodevelopmental disease
Open accessAbstract
The term neurodevelopmental disorder encompasses a wide range of diseases, including recognizably distinct syndromes known to be caused by very rare mutations in specific genes or chromosomal loci, and also much more common disorders such as schizophrenia, autism spectrum disorders, and idiopathic epilepsy and mental retardation. After decades of frustration, the past couple of years have suddenly seen tremendous progress in unravelling the genetics of these common disorders. These findings have led to a paradigm shift in our conception of the genetic architecture of common neurodevelopmental disease, highlighting the importance of individual, rare mutations and overlapping genetic aetiology of various disorders. They have also converged on specific neurodevelopmental pathways, providing insights into pathogenic mechanisms.
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This study adds to an accumulating body of evidence implicating disruption of synaptic processes in schizophrenia.
“This study adds to an accumulating body of evidence from human and animal genetic studies implicating disruption of synaptic processes in schizophrenia.45”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [45]
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“45 By identifying an unprecedentedly large number of de novo CNVs in schizophrenia and demonstrating that these are likely to be highly enriched for pathogenic events, we have added substantially to the evidence implicating synaptic processes in schizophrenia.”
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- Authors
- Mitchell, K. J.
- Affiliations
- Trinity College Dublin (IE)
- Corresponding author
- Mitchell, Kevin J
- ORCID
- Mitchell, Kevin J
- Venue
- Current Opinion in Neurobiology
- Publisher
- Elsevier BV
- Published
- 2011-02
- Volume
- 21
- Issue
- 1
- Pages
- 197-203
- ISSN
- 0959-4388 (ISSN-L)
- OpenAlex
- W2090456896
- Cited by
- 164
- References
- 60
- Citations by year
- 2026: 8 · 2025: 3 · 2024: 5 · 2023: 7 · 2022: 8 · 2021: 7 · 2020: 14 · 2019: 7 · 2018: 7 · 2017: 6 · 2016: 12 · 2015: 20 · 2014: 6 · 2013: 15 · 2012: 23
- FWCI
- 1.81
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- Current Opinion in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- Arrow@dit (Dublin Institute of Technology) (submittedVersion, cc-by-nc-sa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- neurodevelopmental disorders, genetic architecture, rare mutations, common genetic variants, schizophrenia, autism spectrum disorder, idiopathic epilepsy, intellectual disability, genetic aetiology, neurodevelopmental pathways, pathophysiological mechanisms
- MeSH terms
- Central Nervous System Diseases, Humans, Genetic Predisposition to Disease
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