Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Epilepsy & behavior, 2021-06, Vol.119, p.107975-107975, Article 107975

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2021

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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.