MCID: PRG011
MIFTS: 35

Progressive Myoclonus Epilepsy malady

Genetic diseases, Rare diseases categories

Summaries for Progressive Myoclonus Epilepsy

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NIH Rare Diseases:41 Progressive myoclonus epilepsy (pme) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. these diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). pme is different from myoclonic epilepsy. other features include dementia, dystonia, and trouble walking or speaking. these rare disorders often get worse over time and sometimes are fatal. many of these pme diseases begin in childhood or adolescence. last updated: 5/19/2011

MalaCards based summary: Progressive Myoclonus Epilepsy, also known as familial progressive myoclonic epilepsy, is related to progressive myoclonus epilepsy, lafora type and epilepsy, progressive myoclonic 2b. An important gene associated with Progressive Myoclonus Epilepsy is CSTB (cystatin B (stefin B)), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Glucose metabolism. Affiliated tissues include brain and cortex, and related mouse phenotypes are other and no phenotypic analysis.

Wikipedia:63 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

Aliases & Classifications for Progressive Myoclonus Epilepsy

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Progressive Myoclonus Epilepsy, Aliases & Descriptions:

Name: Progressive Myoclonus Epilepsy 9 41 11
Familial Progressive Myoclonic Epilepsy 41 60
Progressive Myoclonic Epilepsy 9 41
 
Pme 9 41
Myoclonic Epilepsies, Progressive 60
Unverricht-Lundborg Syndrome 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

Disease Ontology9 DOID:891
MeSH33 D020191
NCIt38 C7636

Related Diseases for Progressive Myoclonus Epilepsy

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Diseases in the Myoclonus Epilepsy family:

progressive myoclonus epilepsy

Diseases related to Progressive Myoclonus Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy, lafora type31.4EPM2A, NHLRC1
2epilepsy, progressive myoclonic 2b30.8EPM2A, NHLRC1
3neuronal ceroid-lipofuscinoses30.6CLN5
4dementia30.0EPM2A, CLN5, NHLRC1
5epilepsy syndrome29.8NHLRC1, CLN5, EPM2A, CSTB
6myoclonus epilepsy11.3
7myoclonus11.3
8prickle1-related progressive myoclonus epilepsy with ataxia10.8
9ataxia10.6
10neuronitis10.6
11unverricht-lundborg syndrome10.5
12epilepsy, progressive myoclonic 1a10.5
13spinal muscular atrophy10.5
14muscular atrophy10.5
15epilepsy, progressive myoclonic 4, with or without renal failure10.3
16epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.3
17gaucher's disease10.3
18neuropathy10.3
19peripheral neuropathy10.3
20epilepsy progressive myoclonic type 310.3
21mental retardation10.3
22spinal muscular atrophy with progressive myoclonic epilepsy10.3
23leigh syndrome10.2
24epilepsy, progressive myoclonic 710.2
25ceroid lipofuscinosis, neuronal, kufs type, adult onset10.2
26lennox-gastaut syndrome10.2
27dystonia10.2
28nephrotic syndrome10.2
29friedreich ataxia10.2
30epilepsy, progressive myoclonic 510.2
31epilepsy, progressive myoclonic 610.2
32fragile x syndrome10.2
33glycogen storage disease10.2
34hepatitis10.2
35status epilepticus10.2
36mucolipidosis10.2
37down syndrome10.2
38myopathy10.2
39spinocerebellar ataxia10.2
40myotonic dystrophy10.2
41blindness10.2
42progressive myoclonic epilepsy with dystonia10.2
43early myoclonic encephalopathy9.9EPM2A, CSTB

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy:



Diseases related to progressive myoclonus epilepsy

Symptoms for Progressive Myoclonus Epilepsy

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Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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Drug clinical trials:

Search ClinicalTrials for Progressive Myoclonus Epilepsy

Search NIH Clinical Center for Progressive Myoclonus Epilepsy

Genetic Tests for Progressive Myoclonus Epilepsy

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Anatomical Context for Progressive Myoclonus Epilepsy

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MalaCards organs/tissues related to Progressive Myoclonus Epilepsy:

31
Brain, Cortex

Animal Models for Progressive Myoclonus Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.2NHLRC1, EPM2A
2MP:00030129.1CSTB, PRICKLE1, NHLRC1
3MP:00053699.1CSTB, EPM2A, NHLRC1
4MP:00053868.8NHLRC1, EPM2A, PRICKLE1, CSTB
5MP:00053848.7NHLRC1, EPM2A, PRICKLE1, CSTB
6MP:00036318.3CSTB, PRICKLE1, EPM2A, CLN5, NHLRC1

Publications for Progressive Myoclonus Epilepsy

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Articles related to Progressive Myoclonus Epilepsy:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. (25327891)
2014
2
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (23449775)
2013
3
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. (23601850)
2013
4
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. (23325613)
2013
5
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. (24262466)
2013
6
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
7
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
8
Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies. (21482188)
2011
9
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. (19267391)
2009
10
Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). (19321308)
2009
11
The autosomal recessively inherited progressive myoclonus epilepsies and their genes. (19469843)
2009
12
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727)
2008
13
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. (17452581)
2007
14
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. (17952067)
2007
15
Levetiracetam in three cases of progressive myoclonus epilepsy. (17242859)
2007
16
Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy. (17054687)
2006
17
Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. (15508913)
2005
18
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
19
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
20
Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). (12934064)
2003
21
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. (12960212)
2003
22
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. (12484571)
2002
23
Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n. (11697735)
2001
24
Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy. (11198301)
2001
25
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. (10721698)
2000
26
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (11175283)
2000
27
Abnormal reactivity of the approximately 20-Hz motor cortex rhythm in Unverricht Lundborg type progressive myoclonus epilepsy. (11112402)
2000
28
Effects of vagus nerve stimulation on progressive myoclonus epilepsy of Unverricht-Lundborg type. (10961635)
2000
29
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. (9989632)
1999
30
The molecular genetic bases of the progressive myoclonus epilepsies. (10514828)
1999
31
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. (9529356)
1998
32
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. (9054946)
1997
33
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
34
What is expanded in progressive myoclonus epilepsy? (9288090)
1997
35
The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3. (8660980)
1996
36
Cortical reactivity in progressive myoclonus epilepsy. (7510633)
1994
37
Cortical hyperexcitability in progressive myoclonus epilepsy: a study with transcranial magnetic stimulation. (8423883)
1993
38
Buspirone in progressive myoclonus epilepsy. (7679141)
1993
39
Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. (1957976)
1991
40
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (2118240)
1990
41
Visual evoked potentials, brainstem auditory evoked potentials, and quantitative EEG in Baltic progressive myoclonus epilepsy. (3093211)
1986
42
Prolonged cortical somatosensory evoked potential latencies in progressive myoclonus epilepsy. (6431058)
1984
43
Decrease of GABA in the cerebrospinal fluid of patients with progressive myoclonus epilepsy and its correlation with the decrease of 5HIAA and HVA. (6187174)
1982
44
Clinical stages of progressive myoclonus epilepsy in adult patients. (6801911)
1982
45
Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with progressive myoclonus epilepsy. (6163302)
1980
46
Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy. (90138)
1979
47
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. (109240)
1979
48
Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate. (105091)
1978
49
Findings in routine laboratory examination in progressive myoclonus epilepsy. (804227)
1975
50
PROGRESSIVE MYOCLONUS EPILEPSY AS AN INBORN ERROR OF METABOLISM COMPARABLE TO STORAGE DISEASE. (14092643)
1963

Variations for Progressive Myoclonus Epilepsy

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Clinvar genetic disease variations for Progressive Myoclonus Epilepsy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CSTBNM_000100.3: c.-210_-95-93(30_125)undetermined variantPathogenicrs386833438GRCh37Chr 21, 45196349: 45196360
2CSTBNM_000100.3(CSTB): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs74315442GRCh37Chr 21, 45194178: 45194178
3CSTBNM_000100.3(CSTB): c.10G> C (p.Gly4Arg)single nucleotide variantPathogenicrs74315443GRCh37Chr 21, 45196141: 45196141

Expression for genes affiliated with Progressive Myoclonus Epilepsy

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Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy.

Pathways for genes affiliated with Progressive Myoclonus Epilepsy

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Pathways related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5EPM2A, NHLRC1
2
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
9.5EPM2A, NHLRC1

Compounds for genes affiliated with Progressive Myoclonus Epilepsy

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GO Terms for genes affiliated with Progressive Myoclonus Epilepsy

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Cellular components related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057838.7EPM2A, CLN5, NHLRC1
2cytosolGO:00058298.3PRICKLE1, EPM2A, NHLRC1, KCTD7

Biological processes related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein ubiquitinationGO:00313989.5PRICKLE1, NHLRC1
2glycogen biosynthetic processGO:00059789.5EPM2A, NHLRC1
3glucose metabolic processGO:00060069.2EPM2A, NHLRC1
4cell deathGO:00082199.1CLN5, KCTD7

Products for genes affiliated with Progressive Myoclonus Epilepsy

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Sources for Progressive Myoclonus Epilepsy

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3CDC
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14FMA
22GTR
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
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42NINDS
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50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet