Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease. [PDF]
EpilepsiaAbstract Background and Objective Lafora disease (LD) is a rare progressive disorder caused by mutations in the EPM2A or EPM2B genes, characterized by the accumulation of Lafora bodies, drug‐resistant epilepsy, and cognitive decline. To investigate the early molecular mechanisms of LD, we studied electrophysiological changes in the dentate gyrus (DG ...
Costa C +17 more
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Neurobiology of Disease, 2023 Lafora disease is a rare recessive form of progressive myoclonic epilepsy, usually diagnosed during adolescence. Patients present with myoclonus, neurological deterioration, and generalized tonic-clonic, myoclonic, or absence seizures.
Daniel F. Burgos +9 more
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An empirical pipeline for personalized diagnosis of Lafora disease mutations
iScience, 2021 Summary: Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset.
M. Kathryn Brewer +12 more
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The possibility of using skin biopsy in the diagnosis of Lafora disease
Бюллетень сибирской медицины, 2020 Lafora disease is a hereditary, autosomal recessive progressive myoclonus epilepsy caused by mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two.
L. S. Kraeva +3 more
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Two Cases of Lafora Disease Diagnosed By Genetical Tests
Archives of Epilepsy, 2021 Epilepsy develops related to a complex genetic heredity as many diseases in society. Lafora disease (LD) is an autosomal recessive inheritance. It is localized at EPM2A gen 6q23-25 and encodes tyrosine phosphatase (Laforin protein).
Aylin BICAN DEMIR, Ibrahim HAKKI BORA
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Electro-clinical features and management of the late stage of Lafora disease
Frontiers in Neurology, 2022 PurposeThe aim of this study was to elucidate the electro-clinical features and management of the late stage of Lafora disease (LD).MethodsWe investigated the electro-clinical data and medical complications of three LD patients with mutations in EPM2A ...
Giuseppe d'Orsi +5 more
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Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. [PDF]
PLoS ONE, 2009 BackgroundLafora progressive myoclonus epilepsy (Lafora disease; LD) is a fatal autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in either the EPM2A gene, encoding the dual specificity phosphatase laforin, or the EPM2B ...
Santiago Vernia +4 more
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Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study.
PLoS ONE, 2021 Several studies have found associations between higher pancreatic fat content and adverse health outcomes, such as diabetes and the metabolic syndrome, but investigations into the genetic contributions to pancreatic fat are limited.
Samantha A Streicher +23 more
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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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Lafora Disease: A Case Report of Progressive Myoclonic Epilepsy
Case Reports in Clinical Practice, 2023 Lafora disease is a rare genetic disease caused by the accumulation of malformed glycogen products in the tissues. The disease usually manifests with idiopathic generalized tonic colonic seizures with poor response to antiepileptic drugs (AEDs).
Sahar Delavari +4 more
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