The 6(th) International Lafora Epilepsy Workshop: advances in the search for a cure.

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....

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Bibliografiske detaljer
Udgivet i:Epilepsy Behav
Main Authors: Markussen, Kia H., Macedo, Jessica K. A., Machío, María, Dolce, Alison, Goldberg, Y. Paul, Vander Kooi, Craig W., Gentry, Matthew S.
Format: Artigo
Sprog:Inglês
Udgivet: 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8154720/
https://ncbi.nlm.nih.gov/pubmed/33946009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yebeh.2021.107975
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