Identification of gene regulatory networks affected across drug-resistant epilepsies

Liesbeth François (), Alessia Romagnolo, Mark J. Luinenburg, Jasper J. Anink, Patrice Godard, Marek Rajman, Jonathan Eyll, Angelika Mühlebner, Andrew Skelton, James D. Mills, Stefanie Dedeurwaerdere and Eleonora Aronica ()
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Liesbeth François: Early Solutions
Alessia Romagnolo: Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience
Mark J. Luinenburg: Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience
Jasper J. Anink: Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience
Patrice Godard: Early Solutions
Marek Rajman: Early Solutions
Jonathan Eyll: Early Solutions
Angelika Mühlebner: Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience
Andrew Skelton: Early Solutions
James D. Mills: Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience
Stefanie Dedeurwaerdere: Early Solutions
Eleonora Aronica: Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience

Nature Communications, 2024, vol. 15, issue 1, 1-17

Abstract: Abstract Epilepsy is a chronic and heterogenous disease characterized by recurrent unprovoked seizures, that are commonly resistant to antiseizure medications. This study applies a transcriptome network-based approach across epilepsies aiming to improve understanding of molecular disease pathobiology, recognize affected biological mechanisms and apply causal reasoning to identify therapeutic hypotheses. This study included the most common drug-resistant epilepsies (DREs), such as temporal lobe epilepsy with hippocampal sclerosis (TLE-HS), and mTOR pathway-related malformations of cortical development (mTORopathies). This systematic comparison characterized the global molecular signature of epilepsies, elucidating the key underlying mechanisms of disease pathology including neurotransmission and synaptic plasticity, brain extracellular matrix and energy metabolism. In addition, specific dysregulations in neuroinflammation and oligodendrocyte function were observed in TLE-HS and mTORopathies, respectively. The aforementioned mechanisms are proposed as molecular hallmarks of DRE with the identified upstream regulators offering opportunities for drug-target discovery and development.

Date: 2024
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DOI: 10.1038/s41467-024-46592-2

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