Genetics of Lafora progressive myoclonic epilepsy: current perspectives

Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long...

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Detalles Bibliográficos
Autores principales: Kecmanović, Miljana, Keckarević-Marković, Milica, Keckarević, Dušan, Stevanović, Galina, Jović, Nebojša, Romac, Stanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859416/
https://www.ncbi.nlm.nih.gov/pubmed/27194917
http://dx.doi.org/10.2147/TACG.S57890

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