Prioritization of Epilepsy Associated Candidate Genes by Convergent Analysis

摘要: Background Epilepsy is a severe neurological disorder affecting large number of individuals, yet the underlying genetic risk factors for epilepsy remain unclear. Recent studies have revealed several recurrent copy variations (CNVs) that are more likely to be associated with epilepsy. The responsible gene(s) within these regions definitively linked disorder, and implications their interactions not fully understood. Identification genes may contribute better pathological understanding epilepsy, serve implicate novel therapeutic targets further research. Methodology/Principal Findings In this study, we examined heterozygous deletion identified in recent large-scale encompassing diverse spectrum epileptic syndromes. By integrating additional protein-protein interaction data, constructed subnetworks CNV-region also those previously studied We observed 20 common both networks, primarily concentrated small molecular network populated by GABA receptor, BDNF/MAPK signaling, estrogen receptor genes. From among hundreds initial were designated convergent evidence association Importantly, was found contain complex interrelationships, providing insight into epilepsy's pathology. performed pathway enrichment crosstalk analysis functional map which indicates significant closely related neurological, immune, kinase regulatory pathways. Conclusions/Significance The framework proposed here provides unique powerful approach screening identifying promising disease out typically thousands disease-related CNV-regions. Our important mechanisms strategy can applied study other diseases.