News – Amber Presents at the International Epilepsy Congress in Lisbon
New Discovery: Rare Genetic Cause of Epilepsy and Developmental Disorders
During the international ILAE Congress in Lisbon (August 30 – September 3, 2025), Amber Declève, a PhD student in the Laboratory for Molecular Bio-Discovery, presented her recent research on a rare genetic cause of epilepsy.
Her study focused on the gene ELFN1, which plays a crucial role in communication between nerve cells in the brain. When this gene does not function properly, it can lead to developmental problems and epilepsy.
Until now, very little was known about this gene. However, through extensive research involving eight patients and additional experimental studies in mice and zebrafish, the team demonstrated that mutations in ELFN1 can indeed cause epilepsy and hyperactivity.
What does this mean?
Thanks to these findings, “ELFN1 deficiency” can now be recognized as a distinct, rare disorder with specific features related to epilepsy, development, and behavior. This is an important step toward better diagnosis for children with unexplained epilepsy or developmental disorders and opens the door to future research into treatments.
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Amber also served as co–first author on an international publication about this research in a leading scientific journal. More details about this publication can be found via the button below.
Congratulations, Amber!
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