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Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders.

Lisa GeertjensTorben W van VoorstArianne BoumanMaaike A van BovenTjitske KleefstraMatthijs VerhageKlaus Linkenkaer-HansenNael Nadif KasriL Niels CornelisseHilgo Bruining
Published in: Genes (2022)
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.
Keyphrases
  • genome wide
  • gene expression
  • working memory
  • newly diagnosed
  • functional connectivity
  • dna damage
  • prognostic factors
  • transcription factor
  • congenital heart disease
  • resting state