Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders
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 rat...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/2/390 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Lisa Geertjens |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T21:51:39Z |
| format | Article |
| id | doaj.art-3b2647a2a6be452693ad9f75c08d3bc3 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T21:51:39Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-3b2647a2a6be452693ad9f75c08d3bc32023-11-23T20:06:08ZengMDPI AGGenes2073-44252022-02-0113239010.3390/genes13020390Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental DisordersLisa Geertjens0Torben W. van Voorst1Arianne Bouman2Maaike A. van Boven3Tjitske Kleefstra4Matthijs Verhage5Klaus Linkenkaer-Hansen6Nael Nadif Kasri7L. Niels Cornelisse8Hilgo Bruining9Child and Adolescent Psychiatry and Psychosocial Care, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The NetherlandsDepartment of Functional Genomics Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam and Amsterdam UMC-Location VUmc, de Boelelaan 1085, 1081 HV Amsterdam, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The NetherlandsDepartment of Functional Genomics Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam and Amsterdam UMC-Location VUmc, de Boelelaan 1085, 1081 HV Amsterdam, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The NetherlandsDepartment of Functional Genomics Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam and Amsterdam UMC-Location VUmc, de Boelelaan 1085, 1081 HV Amsterdam, The NetherlandsDepartment of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam Neuroscience, VU University Amsterdam, 1081 HV Amsterdam, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The NetherlandsDepartment of Functional Genomics Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam and Amsterdam UMC-Location VUmc, de Boelelaan 1085, 1081 HV Amsterdam, The NetherlandsChild and Adolescent Psychiatry and Psychosocial Care, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The NetherlandsPharmacological 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.https://www.mdpi.com/2073-4425/13/2/390neurodevelopmental disordersiPSC-based modelsEEGSNAREopathieschromatinopathies |
| spellingShingle | 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 Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders Genes neurodevelopmental disorders iPSC-based models EEG SNAREopathies chromatinopathies |
| title | Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders |
| title_full | Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders |
| title_fullStr | Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders |
| title_full_unstemmed | Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders |
| title_short | Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders |
| title_sort | following excitation inhibition ratio homeostasis from synapse to eeg in monogenetic neurodevelopmental disorders |
| topic | neurodevelopmental disorders iPSC-based models EEG SNAREopathies chromatinopathies |
| url | https://www.mdpi.com/2073-4425/13/2/390 |
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