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

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 preclinical therapies, and novel discoveries that define foundational LD mechanisms. (C) 2021 Elsevier Inc. All rights reserved.

Automated summary

Lafora disease is a fatal childhood dementia with severe epilepsy caused by recessive mutations in EPM2A or EPM2B genes, characterized by abnormal cytoplasmic carbohydrate aggregates called Lafora bodies. The 6th International Lafora Epilepsy Workshop, held online due to the pandemic, brought together nearly 300 clinicians, scientists, and stakeholders to discuss clinical progress, translational research, and novel discoveries in understanding the mechanisms of LD.