Results 31 to 40 of about 583 (101)

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

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

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

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

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Glial Alterations in the Glutamatergic and GABAergic Signalling Pathways in a Mouse Model of Lafora Disease, a Severe Form of Progressive Myoclonus Epilepsy

Neuropathology and Applied Neurobiology, Volume 51, Issue 2, April 2025.
Alterations in glutamatergic receptors (GluK2), GABA transporter 1 (GAT1) and Lyn kinase (pLyn) in astrocytes, and glutamate receptors (pGluN2B) and Src kinase (pSrc) in microglia, may lead to hyperexcitability in Lafora disease (LD) mice. ABSTRACT Aims Lafora disease (LD; OMIM#254780) is a rare form of progressive myoclonus epilepsy characterised by ...
Rosa Viana, Teresa Rubio, Ángela Campos‐Rodríguez, Pascual Sanz   +3 more
wiley   +1 more source

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract RBCK1‐related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1 ...
Haley M. Crane, Stephanie Asher, Laura Conway, Theodore G. Drivas, Staci Kallish   +4 more
wiley   +1 more source

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness

ESC Heart Failure, Volume 11, Issue 3, Page 1472-1482, June 2024.
Abstract Aims Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review ...
MohammadHossein MozafaryBazargany, Shiva Esmaeili, Mahshid Hesami, Golnaz Houshmand, Mohamad Mahdavi, Majid Maleki, Samira Kalayinia   +6 more
wiley   +1 more source

Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle

Neuropathology and Applied Neurobiology, Volume 50, Issue 3, June 2024.
Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions. We combined molecular genetic analyses, quantitative mass spectrometry of laser micro‐dissected polyglucosan bodies, immunohistochemistry and western blot, and show that the absence of glycogenin‐1 (GYG1), a protein important for glycogen ...
Kittichate Visuttijai, Carola Hedberg‐Oldfors, Daniel J. Costello, Niamh Bermingham, Anders Oldfors   +4 more
wiley   +1 more source

Doença de Lafora em cão sem raça definida

Pubvet
A doença de Lafora é uma encefalopatia neurodegenerativa hereditária rara, caracterizada pelo acúmulo intracitoplasmático de poliglucosanos anormais decorrentes de alterações no metabolismo do glicogênio, associadas a mutações nos genes EPM2A (laforina ...
Jenifer Caroline Borges Lima, Ana Paula Frederico Loureiro Bracarense   +1 more
doaj   +1 more source