Article
Functional characterization of a human epilepsy-associated gene network reveals metabolic regulation as a critical factor underlying seizure susceptibilities.
Disease models & mechanisms - 1 Jan 2026
Long Jingyi, Jones Spencer G, Serna Ana, van Reijmersdal Boyd, Kampshoff Franziska, Aibar Sara, Verstreken Patrik, Huynen Martijn A, Lüthy Kevin, Coll-Tané Mireia, Schenck Annette
Abstract excerpt
Epilepsy is a mechanistically complex, incompletely understood neurological disorder. To uncover novel converging mechanisms in epilepsy, we used Drosophila whole-brain single-cell RNA sequencing to refine and characterize a previously proposed human epilepsy-associated gene co-expression network (GCN). We identified a conserved co-expressed module of 26 genes, which comprises fly orthologs of 13...
Topics
- Animals
- Humans
- Seizures
- Epilepsy
- Drosophila melanogaster
- Gene Regulatory Networks
- Genetic Predisposition to Disease
- AMP-Activated Protein Kinases
- Drosophila Proteins
- Gene Knockdown Techniques
- Neurons
- Single-Cell Analysis