ObjectiveExon sequencing and bioinformatics techniques were used to explore the pathogenesis of familial cluster epilepsy at the gene level and search for possible susceptibility genes of familial cluster epilepsy. Methods We selected 20 patients diagnosed with familial cluster epilepsy from the Second Affiliated Hospital of Shandong First Medical University as the research objects, and extracted all potential single nucleotide polymorphism sites and nucleotide insertion or deletion variation in the whole genome, to evaluate the pathogenicity of the mutation site and perform gene ontology pathway analysis of candidate genes. Results The sequencing data of 20 DNA samples were qualified. 28 candidate genes were selected by whole-exon sequencing combined with bioinformatics analysis. Gene ontology of epilepsy risk genes mainly acts on neuroactive ligand-receptor interactions, cholinergic synapses and ion channels. Conclusion A total of 10 genes, TSC 2, NRXN 1, POLG, POLG 2, WDR 45, TBC1D24, CHRNA2,K ANSL1, DEPDC5, and CACNA1A, may be susceptibility genes for familial cluster epilepsy. Candidate genes for familial cluster epilepsy may be involved in biological pathways such as neuroactive ligand-receptor interactions, cholinergic synapses and ion channels.
