Childhood epilepsy has a severe impact on parental QOL and psychological health, and recognition of possible correlations between parental QOL and background variables will be helpful to improve parental QOL.

Growing evidence from rodent models of temporal lobe epilepsy (TLE) indicates that dysregulation of the mammalian target of rapamycin (mTOR) pathway is involved in seizures and epileptogenesis. However, the role of the mTOR pathway in the epileptogenic process remains poorly understood. Here, we used an animal model of TLE and sclerotic hippocampus from patients with refractory TLE to determine whether cell-type specific activation of mTOR signaling occurs during each stage of epileptogenesis. In the TLE mouse model, we found that hyperactivation of the mTOR pathway is present in distinct hippocampal subfields at three different stages after kainate-induced seizures, and occurs in neurons of the granular and pyramidal cell layers, in reactive astrocytes, and in dispersed granule cells, respectively. In agreement with the findings in TLE mice, upregulated mTOR was observed in the sclerotic hippocampus of TLE patients. All sclerotic hippocampus (n = 13) exhibited widespread reactive astrocytes with overactivated mTOR, some of which invaded the dispersed granular layer. Moreover, two sclerotic hippocampus exhibited mTOR activation in some of the granule cells, which was accompanied by cell body hypertrophy. Taken together, our results indicate that mTOR activation is most prominent in reactive astrocytes in both an animal model of TLE and the sclerotic hippocampus from patients with drug resistant TLE.

Summary:Purpose: Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS + ) is one of the most common medically intractable epilepsies. Although the pathogenesis of HS + still remains highly controversial, genetics may play a role as a predisposing factor. Previous evidence in a Japanese population shows that the homozygotes for allele 2 at position -511 of the interleukin (IL)-1β gene promoter region (IL-1β-511 * 2/2) confers susceptibility to the development of HS. However, this result has not been confirmed in populations of European ancestry. Given that the discrepancy may be attributed to ethnic differences, our aim in this study was to test the validity of a previous report in another Asian population.Methods: This study consisted of total 112 nonlesional TLE patients of Chinese ancestry, and 115 ethnically matched control subjects. A 304-base pair fragment in position of IL-1β-511 was amplified by polymerase chain reaction (PCR). The PCR products were digested with restriction enzyme AvaI, and run on a 12% polyacrylamide gel. We compared the frequency of this gene variation among 67 refractory TLE-HS + patients, 45 patients without HS (TLE-HS − ), and normal control subjects.Results: The heterozygous type (−511 * 1/2) is the most common genotype in our patient groups and controls. Allele 1 (−511C) and allele 2 (−511T) showed equal frequency (∼50%), which is similar to that (46%) in Japanese. Analysis of genotype and allele distribution showed no significant difference among the three groups (p > 0.05).Conclusions: In contrast with the lower frequency in the white population (35 and 34%) and higher rate in the population of African ancestry (60%), the allele -511T frequency in our present study is ∼50%, indicating differences in the distribution of allele frequencies in IL-1β-511 among different ethnic groups. In this Chinese population, however, we still did not find a strong association between IL-1β-511 polymorphism and the development of HS.