To Explore The Genetic Mechanism Of Post-Traumatic Epilepsy Based On The Whole Exon Sequencing Of Clinical Patients With Glial Scar

Objective: 1.By combining with clinical medical imaging and electroencephalogram and other characterization means,the main symptoms of traumatic epilepsy were analyzed,and the relationship between glial scar and traumatic epilepsy was discussed,so as to find a breakthrough point for further and systematic research on the pathogenesis of traumatic epilepsy.2.By extracting clinical peripheral blood of patients with traumatic epilepsy,extraction of DNA are all exons sequencing,screening and brain glial scar and variation of brain traumatic epilepsy related genes,to explore the genetic basis of brain traumatic scar formation.Methods: 1.Collection with clear clinical history of trauma,9 traumatic epilepsy patients without history of epilepsy as experimental group,and 3 non-traumatic epilepsy patients as control group,respectively,using magnetic resonance imaging and electroencephalography(EEG)and other medical equipment for patients with brain imaging,observation before the operation of the brain morphology and distribution and the glial scar after surgery to cut off the epileptic foci of dyeing.2.Peripheral blood of patients with traumatic epilepsy was extracted,and DNA was extracted for full exome sequencing.Genes related to traumatic epilepsy and glial scar were screened out.Conclusion:1.Through the use of clinical medical imaging characterization methods for imaging of brain lesion,we observed the lesion in patients with brain glial scar morphology and distribution,and post-operative epilepsy were determined by the size of the slices,confirmed the brain glial scar can be used as a breakthrough point for the diagnosis of traumatic epilepsy.2.Through the body in patients with traumatic epilepsy sequencing the DNA of all exons group,we chose 1803 associated with traumatic epilepsy or brain glial scar of the mutant gene,and through the enrichment of functional analysis and protein interaction analysis,we found that the mutation of gene and cell adhesion and cell differentiation process,the formation of tubulin,cytoskeletal protein,which has the function of ATP in combination with genes,and in the outer cell membrane and cell signaling pathways have close relations,further in the study of protein interactions,we found that the protein interaction networks corresponding to these genes were concentrated in several major protein clusters,such as POLR2 F,POLR2H,POLE,POLE2,RPL5,CEP72 and KIF15,suggesting that these protein networks may play an important role in the occurrence and development of diseases.