Results 1 to 10 of about 944 (117)

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

EPM2A acts as a protective factor in prostate cancer, evidence from a real-world patient cohort [PDF]

Frontiers in Pharmacology, 2022
EPM2A encodes a dual specificity phosphatase and has been proven to be a potential biomarker in several cancers but has not been mentioned in prostate cancer (PCA). We investigated the prognostic and therapeutic value of EPM2A in PCA.
Qintao Ge, Zongyao Hao, Jialin Meng
exaly   +4 more sources

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of genetic factors on disease progression has yet to be confirmed.
Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W. Vander Kooi, Matthew S. Gentry, Francesca Bisulli   +10 more
doaj   +2 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

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

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
doaj   +2 more sources

Family-based genome-wide association study for asthma among Han Chinese children [PDF]

BMC Pediatrics
Objective To explore the novel mutations associated with asthma in core family lines of Han Chinese children by using GWAS and transmission disequilibrium test.
Xingyue Su, Beilei Wang, Xiaoling Wei, Min Xue, Jing Wang, Guohua Liu, Xiang Ma   +6 more
doaj   +2 more sources

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings [PDF]

Frontiers in Neurology
Background and objectivesProgressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration.
Lassana Cissé, Lassana Cissé, Salia Bamba, Salia Bamba, Seybou H. Diallo, Seybou H. Diallo, Weizhen Ji, Mohamed Emile Dembélé, Abdoulaye Yalcouyé, Abdoulaye Yalcouyé, Toumany Coulibaly, Ibrahima Traoré, Lauren Jeffries, Salimata Diarra, Salimata Diarra, Alassane Dit Baneye Maiga, Salimata Diallo, Karamoko Nimaga, Amadou Touré, Oumou Traoré, Mahamadou Kotioumbé, Emily Kathryn Mis, Cheick Abdel Kader Cissé, Cheick Oumar Guinto, Cheick Oumar Guinto, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré, Guida Landouré   +29 more
doaj   +2 more sources

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment [PDF]

Neurotherapeutics
Lafora disease (LD) is a fatal progressive myoclonus epilepsy that affects previously healthy adolescents and lacks effective treatments. It is caused by pathogenic variants in EPM2A or NHLRC1, leading to the accumulation of polyglucosan in the brain and
Lorenzo Muccioli, Maria Tappatà, Andrea Farolfi, Pankaj K. Singh, Elena Pasini, Serena Mazzone, Erika Esposito, Lorenzo Motta, Olivia M. D'Agati, Sofia Angeloni, Alice Caravelli, Chiara Cancellerini, Raffaella Minardi, Eleonora Pizzi, Valerio Carelli, Caterina Tonon, Jessica Fiori, Matthew S. Gentry, Luca Vignatelli, Roberto Michelucci, Francesca Bisulli   +20 more
doaj   +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