Whole-exon gene testing can be used as an aid to screen for genetically related epilepsy, but it cannot confirm the diagnosis; other tests such as an EEG are needed to confirm the diagnosis of epilepsy. Whole-exon gene testing, through the technology of molecular biology and molecular genetics, directly detects whether the molecular structure level and expression level are abnormal, so as to make a judgment on the disease. Especially for patients with epilepsy caused by genetic factors, such as gene mutations, whole exon genetic testing is needed to further clarify the diagnosis. For epilepsy syndromes such as benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy, benign childhood epilepsy with centro-temporal spikes, childhood absence epilepsy, and febrile convulsions with additive syndromes, whole-exome genetic testing can be of great help in identifying mutated genetic loci, which can help to predict the risk of developing the disease in the next generation. However, the whole-exon gene test needs to be closely linked with the patient’s clinical symptoms and electroencephalogram, because some patients with a positive gene test do not develop epilepsy due to genetic factors, etc. Therefore, the diagnosis of epilepsy should be based on a combination of the patient’s performance and other tests.