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Transcriptomic decoding of regional cortical vulnerability to drug-resistant epilepsy using 7T MRI.
Haixia Mao1,2,3, Teppei Matsubara1, Naoaki Tanaka1
1Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Communications Biology
|December 23, 2025
Summary
Genetic risk contributes to brain changes in drug-resistant epilepsy (DRE). This study links DRE-related brain activity alterations to specific genes and biological pathways, offering new therapeutic targets.
Area of Science:
- Neuroscience
- Genetics
- Medical Imaging
Background:
- The link between genetic predisposition and cortical changes in drug-resistant epilepsy (DRE) is not fully understood.
- Investigating these mechanisms is crucial for developing effective treatments for DRE.
Purpose of the Study:
- To explore cortical neural activity alterations in DRE patients using advanced neuroimaging.
- To identify genetic mechanisms underlying these functional brain changes in DRE.
Main Methods:
- Utilized 7T structural and resting-state functional MRI in 105 DRE patients and 105 healthy controls (HCs).
- Performed vertex-wise analyses of mean amplitude of low-frequency fluctuation (mALFF) and regional homogeneity (ReHo).
- Integrated spatial transcriptomic analysis with the Allen Human Brain Atlas and gene enrichment analysis.
Main Results:
- DRE patients showed decreased mALFF and increased ReHo in the Cingulo-Opercular Network.
- Cortical alterations were associated with epilepsy-related genes (e.g., TMEM74, KCNN2, RBFOX1) and brain-relevant genes.
- Specific gene enrichment pathways identified for mALFF and ReHo alterations, including mitochondrial function, metabolism, and chromatin remodeling.
Conclusions:
- This study connects spatial brain activity abnormalities in DRE to distinct genetic signatures and biological pathways.
- Findings provide novel mechanistic insights into DRE pathogenesis.
- Identified potential therapeutic targets for DRE management.
