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Review
. 2021 Jun:119:107975.
doi: 10.1016/j.yebeh.2021.107975. Epub 2021 May 1.

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure

Kia H Markussen  1 , Jessica K A Macedo  2 , María Machío  3 , Alison Dolce  4 , Y Paul Goldberg  5 , Craig W Vander Kooi  6 , Matthew S Gentry  7
Affiliations
Review

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure

Kia H Markussen et al. Epilepsy Behav. 2021 Jun.

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 6th 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.

Keywords: Anti-sense oligonucleotide; Childhood dementia; Epilepsy; Glycogen; Glycogen storage disease; Lafora disease.

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Conflict of interest statement

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.

Figures

Figure 1.
Figure 1.
The different approaches being tested as alternative treatments for LD and their pre-clinical stages. ASO: anti-sense oligonucleotides, AEF: antibody-enzyme fusion, NHP: Non-human primates, CNS: Central nervous system, IT: intrathecal, ICV: Intracerebroventricular, IV: Intravenous.
Figure 2.
Figure 2.
Lafora disease hallmarks discussed at the LECI meetings proposed by all labs participating in the Lafora Epilepsy Cure Initiative (LECI). The joint effort of researchers and physicians around the world allows a remarkable progress towards understanding the mechanisms of each preclinical hallmark in the LD brain and multiple therapies to be proposed.
See this image and copyright information in PMC

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