Results 31 to 40 of about 1,886 (182)

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

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

Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress. [PDF]

Int J Mol Sci, 2023
Lafora disease is a rare, fatal form of progressive myoclonus epilepsy characterized by continuous neurodegeneration with epileptic seizures, characterized by the intracellular accumulation of aberrant polyglucosan granules called Lafora bodies.
Romá-Mateo C, Lorente-Pozo S, Márquez-Thibaut L, Moreno-Estellés M, Garcés C, González D, Lahuerta M, Aguado C, García-Giménez JL, Sanz P, Pallardó FV.   +10 more
europepmc   +2 more sources

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

A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy

Türk Patoloji Dergisi, 2021
Lafora disease is a severe form of progressive myoclonic epilepsy with autosomal recessive inheritance diagnosed by inclusion body in biopsy. A 26-year-old woman was admitted due to complaints of frequent twitches and fainting.
Elife KIMILOĞLU, Pelin AKBAŞ, Özgül ESEN ÖRE, Çağla TURAN   +3 more
doaj   +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

NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease. [PDF]

, 2018
Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem.
Jagannathan, Vidya, Jagannathan, Vidhya, Leeb, Tosso, Maiolini, Arianna, Häni, Anna Katrin, Häni, Annakatrin, Barrientos, Laura Soledad   +6 more
core   +1 more source

A PTG variant contributes to a milder phenotype in Lafora disease.

PLoS ONE, 2011
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may
Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos, Roberto Michelucci, Carlo Alberto Tassinari, Patrizia Riguzzi, Carlo Nobile, Pascual Sanz, José M Serratosa, Pilar Gómez-Garre   +12 more
doaj   +1 more source