Abstract:Objecitve To study the hot spot genes mutation related to epilepsy of children with complex febrile convulsions (CFS). Methods A total of 120 children with CFS treated from June 2017 to June 2018 were selected and designed as disease group, and 120 healthy children were served as control group at the same time.DNA extraction from whole blood were screened for mutations in the known pathogenic genes.According to the different types of gene mutations, the children in disease group were divided into ion channel and receptor gene mutations group(SCN1A, SCN1B, SCN2A, SCN9A, GABRG2, GABRD and CACNB4)and cytokine gene mutations group(IL-1Rα, IL-1β, IL-10 and IL-4).The clinical phenotype and the occurrence of epilepsy in children with different gene mutations were compared. Results The mutation rates of SCN1A, SCN1B, SCN2A, SCN9A, GABRG2, GABRD, IL-1Rα, IL-1β, IL-10 and IL-4 genes in disease group were statistically higher than those in control group (all P<0.05).The proportion of children with clinical phenotype of FS in CFS children with ion channel and receptor-related gene mutations was lower than that of CFS children with cytokine gene mutation, however, the proportion of clinical phenotype of FS+, FS+ with comprehensive onset and FS+ with partial onset was significantly higher than that of those with cytokine gene mutations (all P<0.05).There was no significant difference in the incidence of epilepsy in CFS children with ion channel and receptor-related gene mutations and with cytokine gene mutation (10.26% vs 10.00%, P>0.05). Conclusion The hot spot mutations genes related to epilepsy include SCN1A, SCN1B, SCN2A, SCN9A, GABRG2, GABRD, IL-1Rα, IL-1β, IL-10 and IL-4.The clinical phenotype is mainly FS+ in CFS patients with ion channel and receptor-related gene mutations and is mainly FS in CFS patients with cytokine gene mutations.