International KCNB1 Day – An exceptional mobilization for families
On Friday, May 30, 2025, the Institut Imagine hosted International KCNB1 Day, a significant gathering of families, patients, doctors, and researchers. This event brought together more than twenty speakers from all over France, showcasing the scope and diversity of work conducted on epileptic and developmental encephalopathies, particularly those linked to the KCNB1 gene.
🔬 A family-research partnership at the heart of the RHU Innov4-ePiK program
The day featured the official presentation of the Innov4-ePiK program. This ambitious project, led by Prof. Rima Nabbout, offers a multidisciplinary approach to better understand the biological mechanisms underlying patients’ pathophysiology, aiming for tailored medicine. Two clinical studies focusing on the KCNB1, KCNT1, and KCNA2 genes were presented, with a dual goal: to describe the natural history of the disease and to identify biomarkers to improve monitoring and the development of new treatments.
🧪Animal models, artificial intelligence, imaging, neuropsychology: unwavering commitment to innovation at the patient’s bedside
Several major advances were unveiled, including:
- Animal modeling (zebrafish and mice) to reproduce human symptoms and test targeted therapeutic approaches.
- Analysis of medical texts by artificial intelligence, through the tool Docteur Warehouse, to identify similar cases and enrich clinical databases.
- Molecular modeling work at the atomic scale to understand the impact of mutations on ion channels.
- In-depth neuropsychological evaluations to characterize cognitive and behavioral development profiles.
- Adapted practices for pediatric MRI and EEG exams, with special attention to the child’s comfort.
🤝 Active involvement of families and associations
Since its founding in 2017, the KCNB1 France association has played a key role by bringing patients together, actively supporting research, and providing direct support to families. This day was also an opportunity to call for mobilization to form working groups tailored to each person’s expertise to further strengthen collective action.
🌍 An essential European dimension
Presentations from the EpiCARE and ITHACA networks highlighted the importance of European collaborations to pool resources, harmonize practices, and accelerate progress in the field of rare diseases.
The conference report is available online.
❤️ We look forward to seeing you at the 2026 edition and unveiling the very latest advances!
A big thank you to the two associations present, Mains dans la Main and Cause We Play, who helped keep the children entertained during the conference!
