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Myoclonic Epilepsies, Progressive

Known as: Myoclonic Epilepsies, Progressive [Disease/Finding], Epilepsy, Progressive Myoclonus, Epilepsies, Progressive Myoclonus 
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual… 
National Institutes of Health

Related topics

Related topics

21 relations

Narrower (7)

Action Myoclonus-Renal Failure SyndromeAmyotrophic Lateral Sclerosis With Polyglucosan BodiesDentatorubral-Pallidoluysian AtrophyEPILEPSY, PROGRESSIVE MYOCLONIC 2B
BrainCentral Nervous SystemFamilial encephalopathy with neuroserpin inclusion bodiesGeneralized myoclonic seizures

Broader (1)

Epilepsies, Myoclonic

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Progressive multifocal leukoencephalopathy in patients on immunomodulatory therapies.
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the white matter of the human brain caused by… 
Highly Cited
2008
Highly Cited
2008
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
Highly Cited
2007
Highly Cited
2007
Computerized Progressive Attentional Training (CPAT) Program: Effective Direct Intervention for Children with ADHD
We tested the efficacy of a pioneering intervention program grounded in a contemporary theoretical framework of attention and… 
Review
2005
Review
2005
Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects
Highly Cited
2003
Highly Cited
2003
Mutations in NHLRC1 cause progressive myoclonus epilepsy
Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic reticulum (ER)-associated polyglucosan… 
Highly Cited
1999
Highly Cited
1999
Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping.
Linkage disequilibrium (LD) is of great interest for gene mapping and the study of population history. We propose a multilocus… 
Highly Cited
1998
Highly Cited
1998
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and… 
Highly Cited
1988
Highly Cited
1988
Involvement of JC virus-infected mononuclear cells from the bone marrow and spleen in the pathogenesis of progressive multifocal leukoencephalopathy.
PROGRESSIVE multifocal leukoencephalopathy (PML), a subacute demyelinating disease resulting from infection of oligodendrocytes… 
Highly Cited
1985
Highly Cited
1985
Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy.
Fifty-seven consecutive patients with myoclonus from various causes were studied by electrophysiological techniques. Giant… 
Highly Cited
1961
Highly Cited
1961
Progressive multifocal leukoencephalopathy.
IN the course of the regular post-mortem examination of the brains of patients coming to autopsy at the Massachusetts General… 
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