Dysregulated circRNA Expression in Juvenile Myoclonic Epilepsy

Juvenile myoclonic epilepsy (JME) is one of the most common idiopathic generalized epilepsy syndromes, yet its molecular pathogenesis remains incompletely understood. Circular RNAs (circRNAs) are stable non-coding RNAs with important regulatory roles and increasing relevance in neurological disorders. In this study, we investigated for the first time the association between selected circRNAs (hsa_circ_0000218, hsa_circ_0000229, hsa_circ_0000249, hsa_circ_0002010, and hsa_circ_0000143) and JME. Total RNA was isolated from peripheral blood samples of 41 patients with JME and 41 healthy controls, followed by RNase R treatment and quantitative real-time PCR analysis. Expression levels of hsa_circ_0002010 and hsa_circ_0000143 were significantly upregulated in patients with JME compared with controls (both p < 0.001), whereas hsa_circ_0000249 was significantly downregulated (p < 0.001). No significant differences were observed for hsa_circ_0000218 or hsa_circ_0000229. Sex-specific analyses revealed differential expression patterns, and hsa_circ_0002010 and hsa_circ_0000249 were associated with drug resistance. Our findings suggest that certain circRNAs may be involved in molecular pathways related to JME and may provide preliminary information to inform future studies exploring their potential relevance in JME.