Therefore, in this study, we conducted whole exome sequencing and copy number variation sequencing (CNV‐seq) on 492 epilepsy children who had benign or refractory epilepsy, in order to find new epileptic phenotypes related to PRRT2 and verify the positive prediction results of PRRT2‐related CNV by qPCR, so as to further clarify the role of 16p11.2 deletion and further understand the clinical and mutational features of PRRT2‐related epilepsy. Here, PRRT2 is linked to epilepsy.