Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

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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Bibliographic Details
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
Format: Online
Language:English
Published: Springer-Verlag 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154284/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154284/

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