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

doi:10.1016/j.yebeh.2019.106839

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

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

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 language	English
Article number	106839
Journal	Epilepsy and Behavior
Volume	103
DOIs	https://doi.org/10.1016/j.yebeh.2019.106839
State	Published - Feb 2020

Bibliographical note

Publisher Copyright:
© 2019 Elsevier Inc.

Keywords

Glycogen
Glycogen storage disease
Lafora disease
Neurodegeneration
Progressive myoclonus epilepsy

ASJC Scopus subject areas

Neurology
Clinical Neurology
Behavioral Neuroscience

Access to Document

10.1016/j.yebeh.2019.106839

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, Article 106839. https://doi.org/10.1016/j.yebeh.2019.106839

@article{16ebc7a740674005bf83c7655e1be2ff,

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

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.",

keywords = "Glycogen, Glycogen storage disease, Lafora disease, Neurodegeneration, Progressive myoclonus epilepsy",

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

note = "Publisher Copyright: {\textcopyright} 2019 Elsevier Inc.",

year = "2020",

month = feb,

doi = "10.1016/j.yebeh.2019.106839",

language = "English",

volume = "103",

}

Gentry, MS, Afawi, Z, Armstrong, DD, Delgado-Escueta, A, Goldberg, YP, Grossman, TR, Guinovart, JJ, Harris, F, Hurley, TD, Michelucci, R, Minassian, BA, Sanz, P, Worby, CA & Serratosa, JM 2020, 'The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic', Epilepsy and Behavior, vol. 103, 106839. https://doi.org/10.1016/j.yebeh.2019.106839

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.

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

UR - http://www.scopus.com/inward/record.url?scp=85077677812&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85077677812&partnerID=8YFLogxK

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 -

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this