[article]
| Titre : |
Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review |
| Type de document : |
texte imprimé |
| Auteurs : |
Amy L. SYLVESTER, Auteur ; Eva HENSENNE, Auteur ; Dimo IVANOV, Auteur ; Benedikt A. POSER, Auteur ; David E.J. LINDEN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Claudia VINGERHOETS, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Humans DNA Copy Number Variations/genetics Neurodevelopmental Disorders/genetics/physiopathology Neural Inhibition/physiology Copy number variation Excitation Glutamate Inhibition Neurodevelopmental disorders γ-aminobutyric acid for publication: Not applicable. Competing interests: The authors declare no competing interests. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09614-8 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
in Journal of Neurodevelopmental Disorders > 17 (2025)
[article] Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review [texte imprimé] / Amy L. SYLVESTER, Auteur ; Eva HENSENNE, Auteur ; Dimo IVANOV, Auteur ; Benedikt A. POSER, Auteur ; David E.J. LINDEN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Claudia VINGERHOETS, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 17 (2025)
| Mots-clés : |
Humans DNA Copy Number Variations/genetics Neurodevelopmental Disorders/genetics/physiopathology Neural Inhibition/physiology Copy number variation Excitation Glutamate Inhibition Neurodevelopmental disorders γ-aminobutyric acid for publication: Not applicable. Competing interests: The authors declare no competing interests. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09614-8 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
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