Results 11 to 20 of about 583 (101)
Neurobiology of Disease, 2023 Lafora disease is a rare recessive form of progressive myoclonic epilepsy, usually diagnosed during adolescence. Patients present with myoclonus, neurological deterioration, and generalized tonic-clonic, myoclonic, or absence seizures.
Daniel F. Burgos +9 more
doaj +1 more source
An empirical pipeline for personalized diagnosis of Lafora disease mutations
iScience, 2021 Summary: Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset.
M. Kathryn Brewer +12 more
doaj +1 more source
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
Lafora disease in miniature Wirehaired Dachshunds. [PDF]
PLoS ONE, 2017 Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund.
Lindsay Swain +7 more
doaj +1 more source
ILAE Genetics Literacy series: Progressive myoclonus epilepsies
Epileptic Disorders, Volume 25, Issue 5, Page 670-680, October 2023., 2023 Abstract Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME.
Jillian M. Cameron +23 more
wiley +1 more source
Perampanel as precision therapy in rare genetic epilepsies
Epilepsia, Volume 64, Issue 4, Page 866-874, April 2023., 2023 Abstract Objective Perampanel, an antiseizure drug with α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ‐aminobutyric acid inhibition (e.g., SCN1A), overactive excitatory neurons (e.g., SCN2A ...
Andreea Nissenkorn +33 more
wiley +1 more source
Epilepsia, Volume 63, Issue 6, Page 1443-1474, June 2022., 2022 Abstract The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021).
Kate Riney +19 more
wiley +1 more source
Epilepsy in neurodegenerative diseases
Epileptic Disorders, Volume 24, Issue 2, Page 249-273, April 2022., 2022 Abstract Although epilepsy as a comorbidity in neurodegenerative disorders is increasingly recognized, its incidence is still underestimated and the features of epilepsy in the different neurodegenerative conditions are still poorly defined. Improved health care, resulting in increased longevity, will unavoidably lead to an increment of epilepsy cases ...
Sabrina Neri +4 more
wiley +1 more source
The possibility of using skin biopsy in the diagnosis of Lafora disease
Бюллетень сибирской медицины, 2020 Lafora disease is a hereditary, autosomal recessive progressive myoclonus epilepsy caused by mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two.
L. S. Kraeva +3 more
doaj +1 more source
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency
Neuropathology and Applied Neurobiology, Volume 48, Issue 1, February 2022., 2022 Polyglucosan bodies contain amylopectin‐like polysaccharides together with an undefined protein component. By combining laser microdissection, quantitative mass spectrometry and immunohistochemistry, we show that the principal accumulated proteins in polyglucosan body myopathy 1 are associated with glycogen metabolism and the ubiquitin‐proteasome ...
Christer Thomsen +6 more
wiley +1 more source