TY - JOUR
T1 - The 5th International Lafora Epilepsy Workshop
T2 - Basic science elucidating therapeutic options and preparing for therapies in the clinic
AU - Gentry, Matthew S.
AU - Afawi, Zaid
AU - Armstrong, Dustin D.
AU - Delgado-Escueta, Antonio
AU - Goldberg, Y. Paul
AU - Grossman, Tamar R.
AU - Guinovart, Joan J.
AU - Harris, Frank
AU - Hurley, Thomas D.
AU - Michelucci, Roberto
AU - Minassian, Berge A.
AU - Sanz, Pascual
AU - Worby, Carolyn A.
AU - Serratosa, Jose M.
N1 - Publisher Copyright:
© 2019 Elsevier Inc.
PY - 2020/2
Y1 - 2020/2
N2 - 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.
AB - 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.
KW - Glycogen
KW - Glycogen storage disease
KW - Lafora disease
KW - Neurodegeneration
KW - Progressive myoclonus epilepsy
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U2 - 10.1016/j.yebeh.2019.106839
DO - 10.1016/j.yebeh.2019.106839
M3 - Article
C2 - 31932179
AN - SCOPUS:85077677812
SN - 1525-5050
VL - 103
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
M1 - 106839
ER -