Results 31 to 40 of about 944 (117)

Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis

Neurobiology of Disease, 2011
Lafora disease (LD) is the inherited progressive myoclonus epilepsy caused by mutations in either EPM2A gene, encoding the protein phosphatase laforin or the NHLRC1 gene, encoding the ubiquitin ligase malin.
Jaiprakash Sharma, Sudheendra N.R. Rao, Susarla Krishna Shankar, Parthasarathy Satishchandra, Nihar Ranjan Jana   +4 more
doaj   +1 more source

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Current Issues in Molecular Biology, 2023
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue.
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino   +31 more
doaj   +1 more source

Are c.436G>A mutations less severe forms of Lafora disease? A case report

Epilepsy and Behavior Case Reports, 2014
Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed.
Hélène-Marie Lanoiselée, Pierre Genton, Gaetan Lesca, Florence Brault, Bertrand De Toffol   +4 more
doaj   +1 more source

The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants

Epilepsia Open, Volume 10, Issue 6, Page 1990-1996, December 2025.
Abstract We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Lorenzo Muccioli, Francesca Bisulli, Raffaella Minardi, Maria Lucia Valentino, Micaela De Simone, Rodrigo Almeida Paroni, Edward Cesnik, Elisa Fallica, Luigi Bonan, Eleonora Pizzi, DEFEAT‐LD Study Group, Cosimo Altomare, Massimo Carella, Cinzia Costa, Giuseppe Damante, Lidia Di Vito, Giuseppe d’Orsi, Nicola Gambacorta, Paola Imbrici, Valentina Imperatore, Antonella Liantonio, Laura Licchetta, Raffaele Lodi, Paola Mantuano, Orazio Palumbo, Elena Pasini, Paolo Prontera, Luca Vignatelli, Gaetano Cantalupo, Laura Licchetta   +29 more
wiley   +1 more source

Treatment with metformin in twelve patients with Lafora disease

Orphanet Journal of Rare Diseases, 2019
Background Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotective effect ...
Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper   +12 more
doaj   +1 more source

Lafora Disease: Molecular Etiology

Archives of Epilepsy, 2018
Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known as Lafora bodies (LBs).
S. Hande ÇAĞLAYAN
doaj   +1 more source

Lafora Disease: A Ubiquitination-Related Pathology

Cells, 2018
Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble ...
Maria Adelaida García-Gimeno, Erwin Knecht, Pascual Sanz   +2 more
doaj   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

KCNC1‐Related Progressive Myoclonus Epilepsy: A Case Report

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT KCNC1‐related progressive myoclonus epilepsy (EPM7) is a rare disorder causing seizures, myoclonus, and ataxia. The first reported Iranian case highlights the role of genetic testing in diagnosis and potential future treatments, including gene therapy and novel pharmacological approaches.
Mehri Salari, Sara Sadeghzadeh, Masoud Etemadifar   +2 more
wiley   +1 more source

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

European Journal of Neurology, Volume 32, Issue 8, August 2025.
This cohort of 2563 patients is one of the largest published epilepsy genetic studies, achieved in a clinical routine setup. The anonymized clinical and genetic information are provided as a resource for future research. Detailed per‐syndrome and per‐gene analysis have been performed. ABSTRACT Background Epileptic disorders are a heterogeneous group of
Jean‐Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, Caroline Nava, Lionel Arnaud, Cyril Mignot, Dorothée Ville, Stéphane Auvin, Sandrine Tardieu, Kathy Larcher, Isabelle Gourfinkel‐An, Mathilde Canon, Vincent Navarro, Bénédicte Héron, Sophie Julia, Diane Doummar, Marie‐Line Jacquemont, Hélène Maurey, Blandine Dozières‐Puyravel, Laurence Perrin, Laurent Pasquier, Christèle Dubourg, Sylvie Odent, Abdelhakim Bouazzaoui, Wilfrid Carre, Mélanie Fradin, Florence Demurger, Nicolas Chatron, Damien Sanlaville, Miriam Essid, Vincent des Portes, Eleni Panagiotakaki, Anne‐Lise Poulat, Clotilde Rivier, Catherine Sarret, Ganaëlle Remerand, Cecilia Altuzarra, Radka Stoeva, Sylvie Nguyen, Juliette Piard, Élise Boucher, Vincent Flurin, Anne‐Marie Guerrot, Sylvie Joriot, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Caroline Hachon‐Le Camus, Laurent Villard, Marie Faoucher, Mathieu Milh, Gaëtan Lesca, Éric Leguern   +52 more
wiley   +1 more source