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Lafora disease [PDF]

Epileptic Disorders, 2016
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two.
Genton, Pierre, Turnbull, Julie, Tiberia, Erica, Minassian, Berge A., Carpenter, Stirling, STRIANO, PASQUALE, Ackerley, Cameron A.   +6 more
core   +4 more sources

Unusual course of Lafora disease [PDF]

Epilepsia Open, 2016
A 42-year-old male was admitted for refractory status epilepticus. At the age of 25, he had been diagnosed with juvenile myoclonic epilepsy. He had a stable clinical course for over a decade until a recent deterioration of behavior and epilepsy.
Zutt, Rodi, Drost, Gea, de Jong, Bauke M, Drost, Gea; id_orcid, Vos, Yvonne, Miedema, I., tijssen, m.a., de Jong, Bauke M; id_orcid, tijssen, m.a.; id_orcid, Elting, Jan Willem, Brouwer, Oebele, Elting, J.W.J.   +11 more
core   +5 more sources

Lafora Disease: Molecular Etiology

Archives of Epilepsy, 2018
Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known as Lafora bodies (LBs).
S. Hande ÇAĞLAYAN
doaj   +2 more sources

Malin restoration as proof of concept for gene therapy for Lafora disease. [PDF]

Brain Commun, 2022
Lafora disease is a fatal neurodegenerative childhood dementia caused by loss-of-function mutations in either the laforin or malin gene. The hallmark of the disease is the accumulation of abnormal glycogen aggregates known as Lafora bodies (LBs) in the ...
Varea O, Guinovart JJ, Duran J.
europepmc   +4 more sources

Lafora Disease: A Case Report

Archives of Epilepsy, 2016
Lafora disease (LD) is a progressive myoclonus epilepsy with autosomal recessive inheritance. Clinical course is progressive and includes myoclonic, cerebellar, and extrapyramidal signs, generalized tonic-clonic seizures, and cognitive decline.
Ebru APAYDIN DOĞAN, Faik İLİK, Zeliha Esin ÇELİK, Bülent Oğuz GENÇ, Muhammed Nebil SELİMOĞLU   +4 more
doaj   +2 more sources

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. [PDF]

PLoS Genetics, 2011
Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies.
Julie Turnbull, Anna A DePaoli-Roach, Xiaochu Zhao, Miguel A Cortez, Nela Pencea, Erica Tiberia, Mark Piliguian, Peter J Roach, Peixiang Wang, Cameron A Ackerley, Berge A Minassian   +10 more
doaj   +2 more sources

Two Cases of Lafora Disease Diagnosed By Genetical Tests

Archives of Epilepsy, 2021
Epilepsy develops related to a complex genetic heredity as many diseases in society. Lafora disease (LD) is an autosomal recessive inheritance. It is localized at EPM2A gen 6q23-25 and encodes tyrosine phosphatase (Laforin protein).
Aylin BICAN DEMIR, Ibrahim HAKKI BORA
doaj   +2 more sources

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation [PDF]

Neurotherapeutics
Lafora disease (LD) is a fatal teenage-onset neurodegenerative epilepsy caused by loss-of-function mutations of the genes encoding the laforin phosphatase-malin E3 ubiquitin ligase complex.
Esther O. Alao, Mehrnaz Sheibani, Jun Wu, Ummay Marriam, Doretha Evans, Sahba Kasiri, Mayank Verma, Silvia Nitschke, Felix Nitschke, Steven J. Gray, Sharmistha Mitra, Berge A. Minassian   +11 more
doaj   +2 more sources

Mental deterioration in lafora's disease [PDF]

Arquivos de Neuro-Psiquiatria, 1990
Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration.
A. Cukiert, M.M. Vilela, H.B. Scapolan, B. H. W. Lefèvre, L. Marques-Assis   +4 more
doaj   +4 more sources

Lafora Disease Presenting with Ataxia and DM1: A Case Study

Acta Neurologica Taiwanica
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years.
Ramin Khanalizadeh, Kosar Karimi
doaj   +2 more sources