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

Kia H. Markussen, Jessica K.A. Macedo, María Machío, Alison Dolce, Y. Paul Goldberg, Craig W. Vander Kooi, Matthew S. Gentry

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish (US)
Article number107975
JournalEpilepsy and Behavior
Volume119
DOIs
StatePublished - Jun 2021

Keywords

  • Anti-sense oligonucleotide
  • Childhood dementia
  • Epilepsy
  • Glycogen
  • Glycogen storage disease
  • Lafora disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Behavioral Neuroscience

Fingerprint

Dive into the research topics of 'The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure'. Together they form a unique fingerprint.

Cite this