The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.
Epilepsy Behav
; 119: 107975, 2021 06.
Article
em En
| MEDLINE
| ID: mdl-33946009
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Lafora
/
Proteínas Tirosina Fosfatases não Receptoras
Limite:
Child
/
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article