The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Matthew S. Gentry, Zaid Afawi, Dustin D. Armstrong, Antonio Delgado-Escueta, Y. Paul Goldberg, Tamar R. Grossman, Joan J. Guinovart, Frank Harris, Thomas D. Hurley, Roberto Michelucci, Berge A. Minassian, Pascual Sanz, Carolyn A. Worby, Jose M. Serratosa

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Abstract

Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study.

Original languageEnglish (US)
Article number106839
JournalEpilepsy and Behavior
Volume103
DOIs
StatePublished - Feb 2020

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Keywords

  • Glycogen
  • Glycogen storage disease
  • Lafora disease
  • Neurodegeneration
  • Progressive myoclonus epilepsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Behavioral Neuroscience

Cite this

Gentry, M. S., Afawi, Z., Armstrong, D. D., Delgado-Escueta, A., Goldberg, Y. P., Grossman, T. R., Guinovart, J. J., Harris, F., Hurley, T. D., Michelucci, R., Minassian, B. A., Sanz, P., Worby, C. A., & Serratosa, J. M. (2020). The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic. Epilepsy and Behavior, 103, [106839]. https://doi.org/10.1016/j.yebeh.2019.106839