The KCNT1 Families Day took place on Thursday, March 20, 2025, at the Institut Imagine in partnership with the KCNT1 Foundation.
On March 20, 2025, the Imagine Institute hosted an exceptional day dedicated to families affected by mutations in the KCNT1 gene, initiated by Prof. Rima Nabbout and Dr. Justin West (President of the KCNT1 Epilepsy Foundation). This event brought together researchers, clinicians, association representatives, and pharmaceutical industry members, united by a common goal: to advance research, share knowledge, and strengthen the community.
🧠A now well-identified pathology
Prof. Nabbout, a specialist in rare epilepsies at the Imagine Institute, traced the evolution of knowledge about the KCNT1 syndrome, particularly focal infantile epilepsy with migrating seizures (EIFMS). The identification of mutations in this gene marked a turning point in understanding this pathology, which was still poorly understood a decade ago. According to Prof. Nabbout, this moment is a true Kairos, a decisive instant to act: the structuring of research, the development of large-scale projects (such as Innov4-ePiK), and the growing involvement of families create a favorable context for major advances.
🔬 Scientific advances bringing hope
Participants attended high-level presentations on the latest research, including:
- Cellular and animal models to better understand the effect of KCNT1 mutations
- Innovative therapeutic approaches: antisense oligonucleotides (ASO), siRNA, small molecules
- Presentation of the RHU Innov4-ePiK project, funded by the ANR, which centralizes French efforts on several forms of rare epilepsies
Major pharmaceutical laboratories such as Actio Biosciences, Servier, UCB, and Atalanta Therapeutics presented their ongoing projects, confirming the growing interest in this still untreatable disease.
📱Cutting-edge technology serving daily life
The French startup NaoX Technologies presented a revolutionary intra-auricular EEG capable of detecting seizures at home. This device, combined with a mobile app and artificial intelligence, could transform patient monitoring, facilitating access to telemedicine.
👨👩👧👦 Families at the heart of the approach
Dr. Justin West, parent of a child affected by a KCNT1 mutation, emphasized the importance of uniting patients and data globally to make clinical trials possible. Isabella Brambilla (President of Dravet Italia and co-founder of the CREA initiative) highlighted the need for coordinated and humane solutions: caregiver support, comprehensive care, and institutional recognition.
The report of this meeting is available online.
💜 This day also marked the official launch of a French association project for families affected by developmental and epileptic encephalopathy due to the KCNT1 gene: KCNT1 France – Une étincelle pour Isaure.
