Results 31 to 40 of about 4,843,940 (181)

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

Pathogenesis of Lafora disease

, 2021
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of-function mutations in either of the two genes EPM2A (laforin) or EPM2B (malin).
Sullivan, Mitchell A., Nitschke, Silvia, Steup, Martin (Prof. Dr.), Minassian, Berge A., Nitschke, Felix   +4 more
openaire   +3 more sources

Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model. [PDF]

Int J Mol Sci, 2023
Lafora disease (LD) is a neurological disorder characterized by progressive myoclonus epilepsy. The hallmark of the disease is the presence of insoluble forms of glycogen (polyglucosan bodies, or PGBs) in the brain.
Moreno-Estellés M, Campos-Rodríguez Á, Rubio-Villena C, Kumarasinghe L, Garcia-Gimeno MA, Sanz P.   +5 more
europepmc   +2 more sources

Gene therapy for Lafora disease in the Epm2a^-/- mouse model. [PDF]

Mol Ther
Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in adolescence. The disease results from mutations in the EPM2A gene, encoding laforin, or the EPM2B gene, encoding malin. Laforin and malin work together
Zafra-Puerta L, Iglesias-Cabeza N, Burgos DF, Sciaccaluga M, González-Fernández J, Bellingacci L, Canonichesi J, Sánchez-Martín G, Costa C, Sánchez MP, Serratosa JM.   +10 more
europepmc   +2 more sources

Neuromuscular junction dysfunction in Lafora disease [PDF]

Disease Models & Mechanisms
Monica Shukla, Deepti Chugh, Subramaniam Ganesh   +2 more
doaj   +2 more sources

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, Sogol Olamazadeh, Nima Ameli, Bahareh Pourghaz, Abbas Tafakhori   +4 more
doaj   +1 more source

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, S. V. Vtorushin, A. V. Kuzmina, D. V. Kozyritskaya   +3 more
doaj   +1 more source

Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a−/− mice

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, Miriam Sciaccaluga, Carolyn A. Worby, Luis Zafra-Puerta, Nerea Iglesias-Cabeza, Gema Sánchez-Martín, Paolo Prontera, Cinzia Costa, José M. Serratosa, Marina P. Sánchez   +9 more
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Genotypes and phenotypes of patients with Lafora disease living in Germany

Neurological Research and Practice, 2019
Background Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin). The epidemiology of Lafora disease in Germany
David Brenner, Tobias Baumgartner, Sarah von Spiczak, Jan Lewerenz, Roger Weis, Anja Grimmer, Petra Gaspirova, Claudia D. Wurster, Wolfram S. Kunz, Jan Wagner, Berge A. Minassian, Christian E. Elger, Albert C. Ludolph, Saskia Biskup, Dennis Döcker   +14 more
doaj   +1 more source