Investigating the association between the gut microbiome and rare genetic epilepsy
Implementation of a ketogenic diet has been associated with decreased seizure symptoms for individuals with refractory epilepsy, also referred to as drug-resistant epilepsy (DRE), highlighting the potential value of the gut microbiome in seizure treatment. However, the persistence of refractory epilepsy and its relationship with the gut microbiome remains largely understudied. In this preliminary study, a detailed gut microbiome analysis was performed on 12 patients with rare genetic epilepsy compared with their healthy family members as the control group. Nine patients have DRE and the remaining three have drug-susceptible epilepsy (DSE). 16S ribosomal RNA sequencing was performed on stool samples in order to characterize each gut microbiome. While a larger sample size is necessary to generate a comprehensive picture of the gut microbiome-epilepsy interface, preliminary alpha diversity analysis does not reveal a significant difference in bacterial richness and evenness of seizure/non-seizure participants and DRE/DSE. Beta diversity analyses were used to investigate gut microbiome dissimilarity between experimental groups, and comparison of the Bray-Curtis Index to the Jaccard Index suggests that the abundance of certain microbial features is a potential driving factor in the microbiome differences of seizure and drug-resistant epilepsy groups. An analysis of microbiome composition with bias correction (ANCOM-BC) revealed an enrichment of the bacterial genus SMB53 in both seizure participants and drug-resistant epilepsy patients. The preliminary data indicates that bacterial abundance, potentially the genus SMB53, could influence the disease phenotype; however, further investigation is needed to define the potential association between this bacterial enrichment and epilepsy.
