Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

Lafora disease is a fatal autosomal recessive form of progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in adolescence. The two genes known to be involved in Lafora disease ar...

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Detalhes bibliográficos
Main Authors: Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2011
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3154284/
https://ncbi.nlm.nih.gov/pubmed/21505799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-011-0758-y
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