Back to Search
Start Over
The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.
- Source :
-
Epilepsy & behavior : E&B [Epilepsy Behav] 2021 Jun; Vol. 119, pp. 107975. Date of Electronic Publication: 2021 May 01. - Publication Year :
- 2021
-
Abstract
- Lafora disease (LD) is a fatal childhood dementia with severe epilepsy and also a glycogen storage disease that is caused by recessive mutations in either the EPM2A or EPM2B genes. Aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) are both a hallmark and driver of the disease. The 6 <superscript>th</superscript> International Lafora Epilepsy Workshop was held online due to the pandemic. Nearly 300 clinicians, academic and industry scientists, trainees, NIH representatives, and LD friends and family members participated in the event. Speakers covered aspects of LD including progress towards the clinic, the importance of establishing clinical progression, translational progress with repurposed drugs and additional pre-clinical therapies, and novel discoveries that define foundational LD mechanisms.<br />Competing Interests: Declaration of competing interest M.S.G. received funding from Valerion Therapeutics (which is now EnAble Therapeutics) and Ionis Pharmaceuticals. Y.P.G. is an employee and shareholder in Ionis Pharmaceuticals.<br /> (Copyright © 2021 Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1525-5069
- Volume :
- 119
- Database :
- MEDLINE
- Journal :
- Epilepsy & behavior : E&B
- Publication Type :
- Academic Journal
- Accession number :
- 33946009
- Full Text :
- https://doi.org/10.1016/j.yebeh.2021.107975