Results 31 to 40 of about 845 (152)
Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding
Annals of Indian Academy of Neurology, 2016 Lafora body disease (LBD) is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies) in the neurons, heart, skeletal muscle, liver ...
Rajendra Singh Jain +3 more
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Progressive Myoclonus Epilepsy (Lafora Type)
Pediatric Neurology Briefs, 1988 The diagnosis of Lafora's syndrome, progressive myoclonus epilepsy and intracytoplasmic periodic acid-Schiff-positive inclusions (Lafora bodies), was made by skin biopsy in a 16-year-old girl at the Depts of Pathology and Dermatology, University of Texas
J Gordon Millichap
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P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
Neurobiology of Disease, 2023 Laforin and Malin are two proteins that are encoded by the genes EPM2A and EPM2B, respectively. Laforin is a glucan phosphatase and Malin is an E3-ubiquitin ligase, and these two proteins function as a complex.
L. Kumarasinghe +5 more
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Identification of proteins potentially involved in the formation of Lafora bodies, a hallmark of Lafora disease [PDF]
Mol Neurodegener, 2013 Background Lafora Disease (LD) is a fatal teenage-onset progressive myoclonus epilepsy. It is characterized by the formation of Lafora bodies (LBs), deposits of abnormally branched, insoluble, hyperphosphorylated glycogen-like polymers that are generally believed to trigger the development of the clinical symptoms of LD. 58% and 35% of the LD cases are
Schokraie E, Kötting O, Gentry M.
europepmc +4 more sources
Vagus nerve stimulation in Lafora body disease
Epilepsy & Behavior Case Reports, 2013 Lafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic-clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical ...
Hajnsek, Sanja +8 more
openaire +3 more sources
Lafora Disease: Molecular Etiology
Archives of Epilepsy, 2018 Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known as Lafora bodies (LBs).
S. Hande ÇAĞLAYAN
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Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole
Frontiers in Neuroscience, 2014 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 encodes malin.
Ana M García-Cabrero +7 more
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Frontiers in Pediatrics, 2019 Lafora disease (LD) is a rare autosomal recessive disorder characterized by progressive myoclonic epilepsy followed by continuous neurological decline, culminating in death within 10 years.
Ramona C. Nicolescu +3 more
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Lafora disease in miniature Wirehaired Dachshunds. [PDF]
PLoS ONE, 2017 Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund.
Lindsay Swain +7 more
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Glial Contributions to Lafora Disease: A Systematic Review
Biomedicines, 2022 Background: Lafora disease (LD) is a neurodegenerative condition characterized by the accumulation of polyglucosan bodies (PBs) throughout the brain.
Stefania Della Vecchia +2 more
doaj +1 more source