| Literature DB >> 33946009 |
Kia H Markussen1, Jessica K A Macedo2, María Machío3, Alison Dolce4, Y Paul Goldberg5, Craig W Vander Kooi6, Matthew S Gentry7.
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.Entities:
Keywords: Anti-sense oligonucleotide; Childhood dementia; Epilepsy; Glycogen; Glycogen storage disease; Lafora disease
Mesh:
Substances:
Year: 2021 PMID: 33946009 PMCID: PMC8154720 DOI: 10.1016/j.yebeh.2021.107975
Source DB: PubMed Journal: Epilepsy Behav ISSN: 1525-5050 Impact factor: 3.337