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by Keyword: Cytoplasmic glycogen
Williams, MI, Donohue, KJ, Sanz, P, Messahel, S, Serratosa, JM, Duran, J, Michelucci, R, Muccioli, L, Delgado-Escueta, A, Nguyen, VHV, Minassian, BA, Gentry, MS, (2025). The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness Epilepsy & Behavior 171, 110654 
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.
JTD Keywords: Childhood dementia, Cytoplasmic glycogen, Efficacy, Gene, Glycogen, Glycogen storage disease, Lafora disease, Mutations, Myoclonus epilepsy, Phosphatase, Progressive myoclonus epilepsy
