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  • Vincent S Tagliabracci, Julie Turnbull, +7 authors Peter J. Roach
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences
  • 2007 (First Publication: 4 December 2007)
  • Lafora disease is a progressive myoclonus epilepsy with onset typically in the second decade of life and death within 10 years. Lafora bodies, deposits of abnormally branched, insoluble glycogen-likeExpand
  • Elayne M Chan, Cameron A. Ackerley, +5 authors Berge A Minassian
  • Biology, Medicine
  • Human molecular genetics
  • 2004 (First Publication: 21 April 2004)
  • Lafora disease (LD) is a fatal and the most common form of adolescent-onset progressive epilepsy. Fulminant endoplasmic reticulum (ER)-associated depositions of starch-like long-stranded, poorlyExpand
  • Steven J. Clapcote, Steven Duffy, +14 authors John C. Roder
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences
  • 2009 (First Publication: 18 August 2009)
  • In a mouse mutagenesis screen, we isolated a mutant, Myshkin (Myk), with autosomal dominant complex partial and secondarily generalized seizures, a greatly reduced threshold for hippocampal seizuresExpand