Results 21 to 30 of about 944 (117)

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.
Ramona C. Nicolescu, Sara Al-Khawaga, Berge A. Minassian, Khalid Hussain   +3 more
doaj   +1 more source

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders

Cells, 2023
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric ...
Jordi Duran
doaj   +1 more source

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Cell Reports, 2019
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood.
Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke   +12 more
doaj   +1 more source

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes

Epilepsy & Behavior Reports, 2021
We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2–18 years) with heterogeneous epilepsy syndromes with a genetic basis.
Ioannis Zaganas, Pelagia Vorgia, Martha Spilioti, Lambros Mathioudakis, Maria Raissaki, Stavroula Ilia, Melpomeni Giorgi, Irene Skoula, Georgios Chinitrakis, Kleita Michaelidou, Evangelos Paraskevoulakos, Olga Grafakou, Chariklia Kariniotaki, Thekla Psyllou, Spiros Zafeiris, Maria Tzardi, George Briassoulis, Argirios Dinopoulos, Panayiotis Mitsias, Athanasios Evangeliou   +19 more
doaj   +1 more source

Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

Kaohsiung Journal of Medical Sciences, 2009
We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood.
Chih-Fan Tseng, Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu   +5 more
doaj   +1 more source

Canine Lafora Disease: An Unstable Repeat Expansion Disorder

Life, 2021
Canine Lafora disease is a recessively inherited, rapidly progressing neurodegenerative disease caused by the accumulation of abnormally constructed insoluble glycogen Lafora bodies in the brain and other tissues due to the loss of NHL repeat containing ...
Thilo von Klopmann, Saija Ahonen, Irene Espadas-Santiuste, Kaspar Matiasek, Daniel Sanchez-Masian, Stefan Rupp, Helene Vandenberghe, Jeremy Rose, Travis Wang, Peixiang Wang, Berge Arakel Minassian, Clare Rusbridge   +11 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

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

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   +1 more source

Lafora disease: A case report, pathologic and genetic study

Indian Journal of Pathology and Microbiology, 2011
A 19-year-old male patient presented with progressive myoclonic seizures and speech disorder. The patient had photosensitivity, a few episodes of sudden transient blindness, and infrequent complex visual auras, dysarthria and mild ataxia, frequent ...
M H Harirchian, E Esmailee Shandiz, J Turnbull, B A Minassian, R Shahsiah   +4 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source