Article
The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.
Epilepsy & behavior : E&B - 1 Jun 2021
Markussen Kia H, Macedo Jessica K A, Machío María, Dolce Alison, Goldberg Y Paul, Vander Kooi Craig W, Gentry Matthew S
Abstract excerpt
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...
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