Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders
| Autor: | Lisa Geertjens, Torben W. van Voorst, Arianne Bouman, Maaike A. van Boven, Tjitske Kleefstra, Matthijs Verhage, Klaus Linkenkaer-Hansen, Nael Nadif Kasri, L. Niels Cornelisse, Hilgo Bruining |
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| Přispěvatelé: | Functional Genomics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Integrative Neurophysiology, Amsterdam Neuroscience - Brain Imaging, APH - Digital Health, APH - Mental Health, Paediatric Psychosocial Care |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Chromatinopathies
Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] Induced Pluripotent Stem Cells Neurodevelopmental disorders Electroencephalography SNAREopathies Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] All institutes and research themes of the Radboud University Medical Center Synapses Genetics Homeostasis Humans EEG Genetics (clinical) IPSC-based models |
| Zdroj: | Geertjens, L, van Voorst, T W, Bouman, A, van Boven, M A, Kleefstra, T, Verhage, M, Linkenkaer-Hansen, K, Kasri, N N, Cornelisse, L N & Bruining, H 2022, ' Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders ', Genes, vol. 13, no. 2, 390, pp. 1-10 . https://doi.org/10.3390/genes13020390 Genes, 13(2):390, 1-10. Multidisciplinary Digital Publishing Institute (MDPI) Genes, 13(2):390. Multidisciplinary Digital Publishing Institute (MDPI) Genes, 13, 2 Genes, 13 |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes13020390 |
| Popis: | Pharmacological options for neurodevelopmental disorders are limited to symptom suppressing agents that do not target underlying pathophysiological mechanisms. Studies on specific genetic disorders causing neurodevelopmental disorders have elucidated pathophysiological mechanisms to develop more rational treatments. Here, we present our concerted multi-level strategy ‘BRAINMODEL’, focusing on excitation/inhibition ratio homeostasis across different levels of neuroscientific interrogation. The aim is to develop personalized treatment strategies by linking iPSC-based models and novel EEG measurements to patient report outcome measures in individual patients. We focus our strategy on chromatin- and SNAREopathies as examples of severe genetic neurodevelopmental disorders with an unmet need for rational interventions. |
| Databáze: | OpenAIRE |
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