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Frontiers in Neuroscience, ISSN 1662-4548, 2014, Volume 8, pp. 291 - 291
Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin, or in the EPM2B gene, which... 
Epm2a | and Epm2b | Epilepsy | PTZ | Seizure threshold | mice | Lafora disease | epilepsy | MOUSE-BRAIN | PROGRESSIVE MYOCLONUS EPILEPSY | seizure threshold | POST-ICTAL ANALGESIA | Epm2a(-/-) and Epm2b(-/-) mice | NEUROSCIENCES | INDUCED SEIZURES | GENE | METABOLISM | DISEASE | BODIES | RAT-BRAIN | E3 UBIQUITIN LIGASE | Epm2a-/- and Epm2b-/- mice | Lafora Disease
Journal Article
International Journal of Pharma and Bio Sciences, 06/2013, Volume 4, Issue 2, pp. B62 - B72
Journal Article
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 149 - 149
BackgroundLafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model... 
EPM2A | MEDICINE, RESEARCH & EXPERIMENTAL | EPM2B | ACTIVATED PROTEIN-KINASE | GENETICS & HEREDITY | Progressive myoclonus epilepsy | NHLRC1 | Metformin | MODEL | Lafora disease | Nervous system diseases | Dosage and administration | Genetic aspects | Drug therapy
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 10/2017, Volume 51, pp. 77 - 79
* Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy. * We present a child with molecularly diagnosed LD who developed... 
Parkinsonism | EPM2A | Childhood | Lafora disease | EPILEPSY | NEUROSCIENCES | CLINICAL NEUROLOGY | Development and progression | Genetic aspects | Parkinson's disease | Medical colleges | Epilepsy | Medical genetics | Index Medicus
Journal Article
Journal of Drug Targeting, ISSN 1061-186X, 01/2016, Volume 24, Issue 1, pp. 58 - 67
Journal Article
Journal Article
Journal Article
Epilepsy & Behavior Case Reports, ISSN 2213-3232, 2013, Volume 1, Issue 1, pp. 118 - 121
Abstract Aim The aim of this report is to provide initial evidence that add-on treatment with perampanel might be highly effective in progressive myoclonic... 
Neurology | EPM2A | Lafora | Myoclonus | Perampanel | Epilepsy | Progressive myoclonic epilepsy
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 2019, Volume 6, p. 424
Lafora disease (LD) is a rare autosomal recessive disorder characterized by progressive myoclonic epilepsy followed by continuous neurological decline,... 
EPM2A | Insulin resistance | Diabetes | Glycogen metabolism | EPM2B/NHLRC1 | Lafora disease | PROTEIN PHOSPHATASE-1 | MALIN COMPLEX | glycogen metabolism | LIVER-GLYCOGEN | GLYCOGEN-SYNTHESIS | GLUCOSE | LEADS | PEDIATRICS | ACCUMULATION | MUTATIONS | insulin resistance | diabetes | SUBUNIT
Journal Article
Journal Article
BIOCHEMICAL JOURNAL, ISSN 0264-6021, 10/2011, Volume 439, pp. 265 - 275
Lafora progressive myoclonus epilepsy [LD (Lafora disease)] is a fatal, autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in... 
EPM2A | laforin | PROGRESSIVE MYOCLONUS EPILEPSY | GLYCOGEN-SYNTHESIS | MALIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | alanine scanning mutagenesis | CARBOHYDRATE-BINDING DOMAIN | AMP-activated protein kinase (AMPK) | glucan-phosphatase | BODIES | DEGRADATION | protein-protein interaction | MUTATIONS | ACCUMULATION | phosphorylation | E3 UBIQUITIN LIGASE
Journal Article