Results 51 to 60 of about 4,843,940 (181)
Epilepsia, EarlyView.Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer +7 more
wiley +1 more source
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
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 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.
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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
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
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
Impaired autophagy in Lafora disease [PDF]
Autophagy, 2010 Lafora disease (LD) is a progressive, lethal, autosomal recessive, neurodegenerative disorder that manifests with myoclonus epilepsy. LD is characterized by the presence of intracellular inclusion bodies called Lafora bodies (LB), in brain, spinal cord and other tissues.
Knecht E +9 more
openaire +4 more sources
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
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