Studying eyelid movements provides a fascinating perspective on brain health. In epilepsy, paroxysmal eyelid movements are commonly recognized as ictal phenomenon. However, by observing Genetic Generalized Epilepsy (GGE) patients closing their eyes in outpatient clinics, I identified a distinct phenomenon: rapid paroxysmal blinking following voluntary eye closure (vPEM) in a significant number of GGE. This behavior is rarely reported, with limited evidence suggesting it occurs across various GGE types, often without EEG abnormalities, indicating it may not be ictal. Yet, its prevalence, semiology, and benign nature remain unexplored. The BEACON project seeks to address these gaps by investigating vPEM in a large cohort of GGE patients and their relatives, aiming to establish vPEM as a marker of GGE susceptibility, a clinical hallmark of impulsivity, and a feature linked to GGE syndromes across ages. Unlike previous studies, BEACON will standardize vPEM measurement using modern neurophysiological techniques like optoelectronic motion analysis. By combining functional and structural MRI, high-density EEG, and comprehensive clinical phenotyping, BEACON will:
1. Establish vPEM as a distinct clinical hallmark of GGE and its syndromes, exploring its association with disease severity.
2. Define vPEM as a GGE endophenotype tied to visuo-motor network hyperactivation and altered connectivity.
3. Investigate the association between vPEM occurrence and altered dopaminergic/serotonergic states.
4. Test whether targeting these pathways can reduce psychiatric comorbidities and visuo-motor hyperactivity by modifying vPEM features.
By defining vPEM as a quantifiable biomarker, the BEACON project will revolutionize the diagnosis and management of GGE, leading to early identification of at-risk individuals to psychiatric comorbidities and effective treatments. Its outcomes will result in the development of software for portable vPEM assessment tools, impacting global clinical practice.