Results 11 to 20 of about 4,843,940 (181)
The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants [PDF]
Epilepsia OpenWe report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive
Lorenzo Muccioli +12 more
doaj +3 more sources
Glycogen phosphorylation and Lafora disease [PDF]
Molecular Aspects of Medicine, 2015 Covalent phosphorylation of glycogen, first described 35 years ago, was put on firm ground through the work of the Whelan laboratory in the 1990s. But glycogen phosphorylation lay fallow until interest was rekindled in the mid 2000s by the finding that it could be removed by a glycogen-binding phosphatase, laforin, and that mutations in laforin cause a
Peter J Roach
exaly +5 more sources
Canine Lafora Disease: An Unstable Repeat Expansion Disorder [PDF]
Life, 2021 Canine Lafora disease is a recessively inherited, rapidly progressing neurodegenerative disease caused by the accumulation of abnormally constructed insoluble glycogen Lafora bodies in the brain and other tissues due to the loss of NHL repeat containing ...
Thilo von Klopmann +11 more
doaj +2 more sources
Epileptic Disorders, 2016 Abstract 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. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical
Turnbull, Julie +6 more
openaire +4 more sources
Unusual Course of Lafora Disease [PDF]
Epilepsia Open, 2016 SummaryA 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 +7 more
openaire +6 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
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 +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 +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: A Ubiquitination-Related Pathology
Cells, 2018 Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble ...
Maria Adelaida García-Gimeno +2 more
doaj +3 more sources