Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review
Abstract Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes – phenotypically heterogeneous genetic disorders, present in a minority of the population. Recent models suggest that a disrup...
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| Format: | Article |
| Language: | English |
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BMC
2025-06-01
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| Series: | Journal of Neurodevelopmental Disorders |
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| Online Access: | https://doi.org/10.1186/s11689-025-09614-8 |
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| author | Amy L. Sylvester Eva Hensenne Dimo Ivanov Benedikt A. Poser David E. J. Linden Thérèse van Amelsvoort Claudia Vingerhoets |
| author_facet | Amy L. Sylvester Eva Hensenne Dimo Ivanov Benedikt A. Poser David E. J. Linden Thérèse van Amelsvoort Claudia Vingerhoets |
| author_sort | Amy L. Sylvester |
| collection | DOAJ |
| description | Abstract Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes – phenotypically heterogeneous genetic disorders, present in a minority of the population. Recent models suggest that a disruption in the balance between excitatory and inhibitory neural activity may contribute to the aetiology of neurodevelopmental disorders, and may be additionally disturbed in copy number variant syndromes. In this systematic review, the databases PubMed, Embase, and Scopus were searched for studies of excitation/inhibition imbalance in relation to neurodevelopmental disorders in human copy number variant samples. A total of 53 studies were included, representing a variety of copy number variants and research methodologies. The resulting data suggests excitation/inhibition balance is indeed disrupted in different copy number variant populations, providing insight into a putative mechanism of both idiopathic and genetic neurodevelopmental disorders. However, the high level of heterogeneity in the data set, alongside emerging techniques for excitation/inhibition assessment, prompts further investigation of this field. |
| format | Article |
| id | doaj-art-6b8aae5d4a314458bb8ae1e19e0cde00 |
| institution | DOAJ |
| issn | 1866-1955 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj-art-6b8aae5d4a314458bb8ae1e19e0cde002025-08-20T03:20:59ZengBMCJournal of Neurodevelopmental Disorders1866-19552025-06-0117113010.1186/s11689-025-09614-8Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic reviewAmy L. Sylvester0Eva Hensenne1Dimo Ivanov2Benedikt A. Poser3David E. J. Linden4Thérèse van Amelsvoort5Claudia Vingerhoets6Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Research Institute, Maastricht UniversityDepartment of Psychiatry and Neuropsychology, Mental Health and Neuroscience Research Institute, Maastricht UniversityDepartment of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht UniversityDepartment of Cognitive Neuroscience, Faculty of Psychology and Neuroscience, Maastricht UniversityDepartment of Psychiatry and Neuropsychology, Mental Health and Neuroscience Research Institute, Maastricht UniversityDepartment of Psychiatry and Neuropsychology, Mental Health and Neuroscience Research Institute, Maastricht UniversityDepartment of Psychiatry and Neuropsychology, Mental Health and Neuroscience Research Institute, Maastricht UniversityAbstract Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes – phenotypically heterogeneous genetic disorders, present in a minority of the population. Recent models suggest that a disruption in the balance between excitatory and inhibitory neural activity may contribute to the aetiology of neurodevelopmental disorders, and may be additionally disturbed in copy number variant syndromes. In this systematic review, the databases PubMed, Embase, and Scopus were searched for studies of excitation/inhibition imbalance in relation to neurodevelopmental disorders in human copy number variant samples. A total of 53 studies were included, representing a variety of copy number variants and research methodologies. The resulting data suggests excitation/inhibition balance is indeed disrupted in different copy number variant populations, providing insight into a putative mechanism of both idiopathic and genetic neurodevelopmental disorders. However, the high level of heterogeneity in the data set, alongside emerging techniques for excitation/inhibition assessment, prompts further investigation of this field.https://doi.org/10.1186/s11689-025-09614-8Neurodevelopmental disordersCopy number variationExcitationInhibitionGlutamateγ-aminobutyric acid |
| spellingShingle | Amy L. Sylvester Eva Hensenne Dimo Ivanov Benedikt A. Poser David E. J. Linden Thérèse van Amelsvoort Claudia Vingerhoets Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review Journal of Neurodevelopmental Disorders Neurodevelopmental disorders Copy number variation Excitation Inhibition Glutamate γ-aminobutyric acid |
| title | Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review |
| title_full | Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review |
| title_fullStr | Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review |
| title_full_unstemmed | Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review |
| title_short | Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review |
| title_sort | neural excitation inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes a systematic review |
| topic | Neurodevelopmental disorders Copy number variation Excitation Inhibition Glutamate γ-aminobutyric acid |
| url | https://doi.org/10.1186/s11689-025-09614-8 |
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