The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness

Meredith I. Williams; Katherine J. Donohue; Pascual Sanz; Souad Messahel; Jose M. Serratosa; Jordi Duran; Roberto Michelucci; Lorenzo Muccioli; Antonio Delgado-Escueta; Viet Huong V. Nguyen; Berge A. Minassian; Matthew S. Gentry

doi:10.1016/j.yebeh.2025.110654

The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness

Meredith I. Williams, Katherine J. Donohue, Pascual Sanz, Souad Messahel, Jose M. Serratosa, Jordi Duran, Roberto Michelucci, Lorenzo Muccioli, Antonio Delgado-Escueta, Viet Huong V. Nguyen, Berge A. Minassian, Matthew S. Gentry^*

^*Autor corresponent d’aquest treball

Producció científica: Article en revista indexada › Article › Avaluat per experts

Resum

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.

Idioma original	Anglès
Número d’article	110654
Revista	Epilepsy and Behavior
Volum	171
DOIs	https://doi.org/10.1016/j.yebeh.2025.110654
Estat de la publicació	Publicada - d’oct. 2025

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10.1016/j.yebeh.2025.110654

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Williams, M. I., Donohue, K. J., Sanz, P., Messahel, S., Serratosa, J. M., Duran, J., Michelucci, R., Muccioli, L., Delgado-Escueta, A., Nguyen, V. H. V., Minassian, B. A., & Gentry, M. S. (2025). The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness. Epilepsy and Behavior, 171, Article 110654. https://doi.org/10.1016/j.yebeh.2025.110654

@article{768fe3ec0b5747959e2f617c818e826e,

title = "The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness",

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.",

keywords = "Childhood dementia, Glycogen, Glycogen storage disease, Lafora disease, Progressive myoclonus epilepsy",

author = "Williams, \{Meredith I.\} and Donohue, \{Katherine J.\} and Pascual Sanz and Souad Messahel and Serratosa, \{Jose M.\} and Jordi Duran and Roberto Michelucci and Lorenzo Muccioli and Antonio Delgado-Escueta and Nguyen, \{Viet Huong V.\} and Minassian, \{Berge A.\} and Gentry, \{Matthew S.\}",

note = "Publisher Copyright: {\textcopyright} 2025",

year = "2025",

month = oct,

doi = "10.1016/j.yebeh.2025.110654",

language = "English",

volume = "171",

journal = "Epilepsy and Behavior",

issn = "1525-5050",

publisher = "Academic Press Inc.",

}

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.

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 -

The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness

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