Document Type
Article
Publication Date
8-27-2025
Abstract
Lafora disease (LD) is a fatal childhood progressive myoclonus epilepsy and glycogen storage disease that is caused by recessive mutations in either EPM2A or EPM2B. The hallmarks of LD are cytoplasmic, aberrant glycogen-like aggregates, called Lafora bodies (LBs), that drive disease progression. The 9th Annual Lafora Science Symposium was held in San Diego, California and brought together over 70 researchers, clinicians, academic trainees, and friends and family members of patients with LD and 80 attendees joined virtually. This symposium focused primarily on international collaborations for therapeutic development and biomarker identification and strategies for preparing the Lafora community for upcoming clinical trials.
Recommended Citation
Williams MI, Donohue KJ, Sanz P, et al. The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness. Epilepsy Behav. 2025;171:110654. https://doi.org/10.1016/j.yebeh.2025.110654
Copyright
Elsevier
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
Included in
Nervous System Diseases Commons, Neurology Commons, Neurosciences Commons, Other Pharmacy and Pharmaceutical Sciences Commons, Pediatrics Commons, Pharmaceutics and Drug Design Commons, Therapeutics Commons
Comments
NOTICE: this is the author’s version of a work that was accepted for publication in Epilepsy & Behavior. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Epilepsy & Behavior, volume 171, in 2025. https://doi.org/10.1016/j.yebeh.2025.110654
The Creative Commons license below applies only to this version of the article.