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Updated: Sep 9, 2025

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Published on: December 18, 2016
The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness
Meredith I Williams1, Katherine J Donohue2, Pascual Sanz3
1Chelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Department of Cellular and Molecular Biology, Baylor College of Medicine, 1 Baylor Plz, Houston, TX 77030 USA.
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.
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