Transcriptome profiling reveals major structural genes, transcription factors and biosynthetic pathways in refractory epilepsy in tropical region of China.

BACKGROUND

Epilepsy is a chronic neurological disorder known for its recurring seizures, prolonged course, and unpredictability. Importantly, a group of patients with refractory epilepsy do not respond to pharmacological treatments, even though they show symptoms similar to those of drug-responsive epilepsy. This situation creates substantial challenges in diagnosing and managing the disorder. In tropical regions, specific environmental and economic factors intensify the socio-economic impact. Consequently, discovering blood-based biomarkers for tropical refractory epilepsy is highly valuable for developing prevention and treatment approaches.

METHODS

In our study, we used RNA sequencing (RNA-seq) to examine the peripheral blood transcriptomes of both healthy individuals and patients with tropical refractory epilepsy.

RESULTS

Our analysis identified a total of 3,381 differentially expressed genes (DEGs). Using bioinformatics tools and manual verification, we pinpointed CAMK2A, CAMK2B, and CAMK2D as key genes potentially involved in tropical refractory epilepsy. Moreover, our comparison of alternative splicing (AS) patterns between healthy individuals and patients revealed 1,471 differentially alternative splicing (DAS) events.

CONCLUSIONS

The interactions between CAMK2A, CAMK2B, CAMK2D, and PDE4B, CYBB, RAP1A, RAP1B, CALM1, FLNA, ATF4, PLCB2 could underlie potential mechanisms of tropical RE.