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… (More)
National Institutes of Health

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Narrower (7)

Action Myoclonus-Renal Failure SyndromeAmyotrophic Lateral Sclerosis With Polyglucosan BodiesDentatorubral-Pallidoluysian AtrophyEPILEPSY, PROGRESSIVE MYOCLONIC 2B
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BrainCentral Nervous SystemFamilial encephalopathy with neuroserpin inclusion bodiesGeneralized myoclonic seizures
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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… (More)
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Highly Cited
2008
Highly Cited
2008
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized… (More)
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Highly Cited
2008
Highly Cited
2008
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal… (More)
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Highly Cited
2006
Highly Cited
2006
Meningeal B-cell follicles in secondary progressive multiple sclerosis associate with early onset of disease and severe cortical pathology.
Intrathecal antibody production is a hallmark of multiple sclerosis and humoral immunity is thought to play an important role in… (More)
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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… (More)
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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… (More)
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Highly Cited
1997
Highly Cited
1997
Neural Substrates of Fluid Reasoning: An fMRI Study of Neocortical Activation during Performance of the Raven's Progressive Matrices Test
We examined brain activation, as measured by functional magnetic resonance imaging, during problem solving in seven young… (More)
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Highly Cited
1997
Highly Cited
1997
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
Progressive myoclonus epilepsy of the Unverricht–Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder with onset… (More)
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Highly Cited
1996
Highly Cited
1996
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy… (More)
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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… (More)
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