ObjectiveTo investigate the relationships between the onset age, genotype, clinical phenotype and the efficacy of Rapamycin in patients with tuberous sclerosis complex.MethodsRetrospectively analyze the clinical data of patients with tuberous sclerosis complex (TSC) who were diagnosed with epilepsy in Guangdong Sanjiu Brain Hospital from October 2013 to December 2018. Meanwhile, the relationships between the onset age of epilepsy and genotype, clinical phenotype and Rapamycin efficacy were analyzed comprehensively.ResultsTSC gene was detected in 104 patients with tuberous sclerosis complex, of which 85 (81.7%) were positive and 44 (51.8%) were males as well as 41 (48.2%) were females, with an average age of (4.0±4.9) years old. And there were 34 (40.0%) TSC1 mutations and 51 (60.0%) TSC2 mutations. The patients were divided into 3 groups according to their ages: ≤1 year old, 1 ~ 6 years old and ≥6 years old. Among them, 31 cases (36.5%) were in the ≤1 year old group, 31 cases (36.5%) in the 1 ~ 6 years old group and 23 cases (27.0%) in the ≥6 years old group. Through statistical analysis, we found that the onset age of epilepsy in patients with TSC1 and TSC2 gene mutations was statistically different (χ2=9.030, P=0.011). Further analysis of the relationship between the onset age of epilepsy and other clinical phenotypes showed that there were statistical differences in the probability of mental retardation and spasm seizure in different onset age groups of epilepsy (P<0.05). In addition, patients with epilepsy onset age ≤1 year old are more likely to have renal disease and patients with epilepsy onset age ≥6 years old are more likely to have SEGAs. There was no significant difference between the onset age of epilepsy and the efficacy of Rapamycin (P>0.05).ConclusionTSC2 mutation, mental retardation and spasm seizure are more likely to occur in patients with epilepsy onset age ≤1 year old. The study on multiple factors of epilepsy onset age may have a certain guiding role in judging the development and prognosis of TSC with epilepsy.