TY - JOUR
T1 - Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders
AU - Geertjens, Lisa
AU - van Voorst, Torben W.
AU - Bouman, Arianne
AU - van Boven, Maaike A.
AU - Kleefstra, Tjitske
AU - Verhage, Matthijs
AU - Linkenkaer-Hansen, Klaus
AU - Kasri, Nael Nadif
AU - Cornelisse, L. Niels
AU - Bruining, Hilgo
N1 - Funding Information: BRAINMODEL ZonMW PSIDER program 10250022110003. BECAUSE ZonMW TOP 91216064. NewTDEC Netherlands Organization for Scientific Research (NWO) Dutch National Research Agenda, NWA-ORC Call (NWA.1160.18.200). Aspasia Grant of the Dutch Research Council (015.014.036). Netherlands Organization for Health Research and Development (91718310). Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/2
Y1 - 2022/2
N2 - Pharmacological options for neurodevelopmental disorders are limited to symptom sup-pressing 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 neuro-scientific 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 neurodevelop-mental disorders with an unmet need for rational interventions.
AB - Pharmacological options for neurodevelopmental disorders are limited to symptom sup-pressing 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 neuro-scientific 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 neurodevelop-mental disorders with an unmet need for rational interventions.
KW - Chromatinopathies
KW - EEG
KW - IPSC-based models
KW - Neurodevelopmental disorders
KW - SNAREopathies
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U2 - https://doi.org/10.3390/genes13020390
DO - https://doi.org/10.3390/genes13020390
M3 - Article
C2 - 35205434
SN - 2073-4425
VL - 13
SP - 1
EP - 10
JO - Genes
JF - Genes
IS - 2
M1 - 390
ER -