Article
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.
Epilepsy & behavior : E&B - 1 Feb 2020
Gentry Matthew S, Afawi Zaid, Armstrong Dustin D, Delgado-Escueta Antonio, Goldberg Y Paul, Grossman Tamar R, Guinovart Joan J, Harris Frank, Hurley Thomas D, Michelucci Roberto, Minassian Berge A, Sanz Pascual, Worby Carolyn A, Serratosa Jose M
Abstract excerpt
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...
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