Results 51 to 60 of about 1,886 (182)
Autophagy defects in Lafora disease
, 2012 Lafora disease (LD) is an inherited and fatal form of neurodegenerative disorder characterized by the presence of an abnormal form of glycogen inclusions, called Lafora bodies, in neurons and other tissues.
Puri, Rajat, Ganesh, Subramaniam
core +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
NHLRC1 repeat expansion in two beagles with Lafora disease
, 2016 Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes.
Minassian, BA +6 more
core +2 more sources
Is adjunctive perampanel beneficial for lafora disease? [PDF]
Vojnosanitetski Pregled, 2020 Backgrund/Aim. Lafora disease (LD) is progressive myoclonus epilepsy, characterized by intractable myoclonus and seizures, inevitable neurological deterioration, brutal cognitive decline and poor prognosis. The treatment still remains purely symptomatic.
Stevanović Galina +2 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 +3 more
wiley +1 more source
Glycogen metabolism in Lafora disease
, 2018 Indiana University-Purdue University Indianapolis (IUPUI)Glycogen, a branched polymer of glucose, serves as an osmotically neutral means of storing glucose.
Contreras, Christopher J.
core +1 more source
Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding
Annals of Indian Academy of Neurology, 2016 Lafora body disease (LBD) is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies) in the neurons, heart, skeletal muscle, liver ...
Rajendra Singh Jain +3 more
doaj +1 more source
Epilepsia Open, EarlyView.Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi +6 more
wiley +1 more source
Neurobiology of Disease, 2023 Lafora disease (LD; OMIM#254780) is a rare form of progressive myoclonus epilepsy (prevalence
Teresa Rubio +4 more
doaj +1 more source
PROTEOMICS, EarlyView.ABSTRACT Despite their widespread use as a research model, a comprehensive, quantitative proteomic profile of the cultured hippocampal neurons has remained unexplored. Here, we provide the first global proteomic characterization of primary murine hippocampal neurons cultured for 14 days under near‐physiological glucose conditions (2.5 mM).
Dominika Drulis‐Fajdasz +6 more
wiley +1 more source