Back to Search Start Over

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

Authors :
National Institute of Neurological Disorders and Stroke (US)
National Institutes of Health (US)
Ministerio de Educación (España)
Fundación Ramón Areces
Ministerio de Economía y Competitividad (España)
Sanz, Pascual [0000-0002-2399-4103]
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.
National Institute of Neurological Disorders and Stroke (US)
National Institutes of Health (US)
Ministerio de Educación (España)
Fundación Ramón Areces
Ministerio de Economía y Competitividad (España)
Sanz, Pascual [0000-0002-2399-4103]
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.
Publication Year :
2020

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.

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1286538287
Document Type :
Electronic Resource