AGE Program

We may have been thinking about Dravet syndrome too narrowly. For decades, Dravet syndrome has been framed primarily as a severe pediatric epilepsy. But as more individuals reach adulthood, we are learning that the neurological story continues to evolve.
In this upcoming talk at the European Dravet Syndrome Conference 2026, I will discuss clinical and neuropathological insights into Dravet syndrome, including what long-term clinical follow-up and neuropathological studies are beginning to reveal about the lifespan trajectory of this condition.
I would be very interested to hear from colleagues if they are also observing new clinical manifestations emerging as these patients age.
Neuroscience MovementDisorders RareDisease

🧠 GLYMPHATIC INSUFFICIENCY, ACCELERATED AGING and NEURONAL DEGENERATION in an ADULT WITH DRAVET SYNDROME.

We are honoured to share our latest study, which provides the first neuropathological insights into aging in Dravet Syndrome (DS).
In this deeply collaborative effort, we analyzed the donated brain of a courageous 55-year-old woman with DS who lived with seizures, parkinsonism, and cognitive decline. Thanks to her family’s extraordinary generosity, we uncovered:
🔹 Striking excess and several layers of corpora amylacea (wasteosomes) covering the whole convexity of the brain. 
🔹 p62-positive neuritic pathology, TMEM106B deposits, and aquaporin-4 excess
🔹 neuronal loss in the substantia nigra, neocortex, and hippocampus and severe Purkinje cell loss
🔹 No signs of classical proteinopathies (e.g., α-synuclein, TDP-43, amyloid-β)
These findings point to an accelerated aging and neurodegenerative process, offering a new lens through which to understand the lifelong trajectory of DS.
🧬 This work supports what we are seeing clinically: Dravet Syndrome is not “only” developmental. It reinforces the urgent need for lifespan care, long-term monitoring, and natural history studies going beyond adolescence or early adulthood.
To the family who made this possible: your gift will change how we see and care for adults with DS. We are profoundly grateful. 💜
Gabor G. Kovacs, Alfonso Fasano, Carmela Tartaglia, Quratulain Zulfiqar Ali, Victor Lira, Nicolai Reyes, Anne Bassett. University Health Network Krembil Research Institute Dravet Syndrome FoundationFundación Síndrome de Dravet Fundación Dravet Latam

Mark your calendars for the 1st Pediatric Commission Symposium of the International League Against Epilepsy !🗓️
📅 When: March 21-24, 2025
📍 Where: In-Person or Online – your choice!

This groundbreaking event is dedicated to advancing the care and treatment for neonates, children, and adolescents living with epilepsy. Join us as we bring together leading experts to share insights, innovations, and strategies to improve outcomes for young patients worldwide.

We’re honored to have an incredible lineup of speakers, including:

Kette Valente Valente
Julia Jacobs - Le Van
Elaine Wirrell
Helen Cross
Ingrid Scheffer
Ana Carolina Coan
Leticia Pereira de Brito Sampaio
Nicholas Abend
Magda Lahorgue Nunes

Whether you join us in person or virtually, this is an unmissable opportunity to connect, learn, and collaborate with the best in the field. Let’s work together to shape the future of pediatric epilepsy care! 💜

🔗 Learn more and register here:
https://lnkd.in/dTD2Us9x

Honoured to talk about Precision Therapies in Epilepsy during the . Grateful for the opportunity to share insights and engage in meaningful discussions with Leticia Sampaio

On my way (by 🚂) to Montreal for the Canadian League Against Epilepsy Meeting. I’ll talk about the genetic influences and determinants of Epilepsy In Women. Esther Bui MD, FRCPC Paula Marques
Helen Cross International League Against Epilepsy Mark Keezer, Janani Kassiri, Anita Datta, Simone Lebeuf, Kristin Ikeda.

Heading to Rome for the European Epilepsy Congress 2024

The Dravet Syndrome Foundation once again made a fantastic family meeting, bringing together several families, patients, physicians, scientists, industry, all to promote research and a cure for this disease. Congratulations !!!

Are we doing enough to prevent SUDEP? See my editorial about the work being done in Germany by Adam Strzelczyk.