Results 1 to 10 of about 583 (101)

Advances in gene therapy for Lafora disease: Intravenous recombinant adeno‐associated virus‐mediated delivery of EPM2A and EPM2B genes [PDF]

Clinical and Translational Medicine
Background Lafora disease is a rare and fatal form of progressive myoclonus epilepsy that typically manifests in late childhood, presenting with seizures and progressive neurological decline.
Luis Zafra-Puerta, Nerea Iglesias-Cabeza, Cinzia Costa   +2 more
exaly   +4 more sources

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation [PDF]

Neurotherapeutics
Lafora disease (LD) is a fatal teenage-onset neurodegenerative epilepsy caused by loss-of-function mutations of the genes encoding the laforin phosphatase-malin E3 ubiquitin ligase complex.
Esther O. Alao, Mehrnaz Sheibani, Jun Wu, Ummay Marriam, Doretha Evans, Sahba Kasiri, Mayank Verma, Silvia Nitschke, Felix Nitschke, Steven J. Gray, Sharmistha Mitra, Berge A. Minassian   +11 more
exaly   +4 more sources

Lafora Disease: A Case Report and Evolving Treatment Advancements [PDF]

Brain Sciences, 2023
Lafora disease is a rare genetic disorder characterized by a disruption in glycogen metabolism. It manifests as progressive myoclonus epilepsy and cognitive decline during adolescence.
Carola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli, Daniele Velardo, Megi Meneri, Davide Iacobucci, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti, Elena Abati   +13 more
doaj   +2 more sources

P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease [PDF]

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, M.A. Garcia-Gimeno, J. Ramirez, U. Mayor, J.L. Zugaza, P. Sanz   +5 more
doaj   +2 more sources

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease. [PDF]

Mol Genet Genomic Med, 2023
We identified a new heterozygous mutation (c.71+1G>A) in a Chinese LD pedigree, which broaden the mutation spectrum of LD genes. We found that the patient exhibited brain volumetric atrophy along with rapidly worsening symptoms. These results contribute to enriching our understanding of LD.
Sun Y, Zhou Z, Wang Q, Yan J, Zhang Z, Cui T.   +5 more
europepmc   +2 more sources

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.
Gentzane Sánchez-Elexpuru, JOSÉ M Serratosa, Marina P Sanchez   +2 more
exaly   +3 more sources

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy [PDF]

BMC Neurology
Background Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various ...
Ramtin Naderian, Farzane Vafaeian, Seyyed Mohamad Hoseini, Samira Sanami   +3 more
doaj   +2 more sources

Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance

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.
Sara Al-Khawaga, Berge A Minassian, Khalid Hussain   +2 more
exaly   +3 more sources

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease. [PDF]

Epilepsia
Abstract 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, Bellingacci L, Canonichesi J, Imperatore V, Taddei AA, Zafra-Puerta L, Iglesias-Cabeza N, Prontera P, Mancini A, Di Filippo M, Tozzi A, Martinello K, Barzasi M, Gardoni F, Sánchez MP, Serratosa JM, Parnetti L, Sciaccaluga M.   +17 more
europepmc   +2 more sources

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease [PDF]

Neurotherapeutics
Antonella Riva, Pasquale Striano
doaj   +2 more sources