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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer-Verlag 2011
Konular:
Original Article
Online Erişim: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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