Omics-DEE Study Rationale
Several studies in epilepsy have demonstrated differences in the gut microbiota composition between patients and healthy controls, as well as among patients with different responses to anti-seizure medications. Although preclinical studies on animal models are not fully translatable into clinical practice due to phylogenetic bacterial differences, they further support these findings.
In addition, efforts have been made to modulate the gut microbiota through supplements (e.g. probiotics) and dietary interventions (such as the ketogenic diet), with potential implications for disease treatment and outcomes. Some gut bacterial species are also able to produce molecules or “transmitters” that can enter the bloodstream and reach the brain, potentially influencing symptoms and therapeutic response.
Identifying these molecules and the bacterial species responsible for their production is therefore crucial, as they could become useful biomarkers of disease severity and progression, measurable through simple blood tests.
Aim
The aim of this study is to collect blood and faecal samples to characterise microbial signatures in patients with rare monogenic epilepsies and to identify disease-associated biomarkers.
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