Structural and functional alterations in MRI-negative drug-resistant epilepsy and associated gene expression features

Neuroimaging techniques have been widely used in the study of epilepsy. However, structural and functional changes in the MRI-negative drug-resistant epilepsy (DRE) and the genetic mechanisms behind the structural alterations remain poorly understood. Using structural and functional MRI, we analyzed gray matter volume (GMV) and regional homogeneity (ReHo) in DRE, drug-sensitive epilepsy (DSE) and healthy controls. Gene expression data from Allen human brain atlas and GMV/ReHo were evaluated to obtain drug resistance-related and epilepsy-associated gene expression and compared with real transcriptional data in blood. We found structural and functional alterations in the cerebellum of DRE patients, which may be related to the mechanisms of drug resistance in DRE. Our study confirms that changes in brain morphology and regional activity in DRE patients may be associated with abnormal gene expression related to nervous system development. And SP1, as an important transcription factor, plays an important role in the mechanism of drug resistance.