A pilot study of a ketogenic diet in patients with Lafora body disease

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

Berge A. Minassian, Jeffrey R. Lee, Jo-Anne Herbrick et al. · Nature Genetics · 1998 · 490 citations

Life Sciences, Genetics, Neurology +10

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M. Chan, Edwin J. Young, Leonarda Ianzano et al. · Nature Genetics · 2003 · 326 citations

Life Sciences, Genetics, Molecular Genetics +12

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

Subramaniam Ganesh · Human Molecular Genetics · 2002 · 245 citations

Life Sciences, Neurology, Neuroscience +17

Worldwide Use of the Ketogenic Diet

Eric H. Kossoff, Jane R. McGrogan · Epilepsia · 2005 · 184 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +14

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

Human Molecular Genetics · 2003 · 114 citations · Full text

Medicine, Genetics, Molecular Genetics +15