TY - JOUR
T1 - The 9th annual Lafora science symposium
T2 - a rare epilepsy community makes progress towards clinical readiness
AU - Williams, Meredith I.
AU - Donohue, Katherine J.
AU - Sanz, Pascual
AU - Messahel, Souad
AU - Serratosa, Jose M.
AU - Duran, Jordi
AU - Michelucci, Roberto
AU - Muccioli, Lorenzo
AU - Delgado-Escueta, Antonio
AU - Nguyen, Viet Huong V.
AU - Minassian, Berge A.
AU - Gentry, Matthew S.
N1 - Publisher Copyright:
© 2025
PY - 2025/10
Y1 - 2025/10
N2 - 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.
AB - 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.
KW - Childhood dementia
KW - Glycogen
KW - Glycogen storage disease
KW - Lafora disease
KW - Progressive myoclonus epilepsy
UR - https://www.scopus.com/pages/publications/105014416066
U2 - 10.1016/j.yebeh.2025.110654
DO - 10.1016/j.yebeh.2025.110654
M3 - Article
AN - SCOPUS:105014416066
SN - 1525-5050
VL - 171
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
M1 - 110654
ER -