PME
MCID: PRG011
MIFTS: 43

Progressive Myoclonus Epilepsy (PME) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Progressive Myoclonus Epilepsy

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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).Ā pmeĀ is different from myoclonic epilepsy.Ā otherĀ features includeĀ dementia, dystonia, and trouble walking or speaking. these rare disorders often get worse over time and sometimes are fatal.Ā many of these pme diseases begin in childhood or adolescence. last updated: 5/19/2011

MalaCards: Progressive Myoclonus Epilepsy, also known as familial progressive myoclonic epilepsy, is related to progressive myoclonus epilepsy, lafora type and lafora disease. An important gene associated with Progressive Myoclonus Epilepsy is PRICKLE1 (prickle homolog 1 (Drosophila)), 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 muscle.

Wikipedia:66 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

Description from OMIM:48 612437, 613832, 254900, 611726, 614018 310370 more

Aliases & Classifications for Progressive Myoclonus Epilepsy

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 48OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

progressive myoclonus epilepsy 9 11
familial progressive myoclonic epilepsy 44 63
progressive myoclonic epilepsy 9 44
myoclonic epilepsies, progressive 63
unverricht-lundborg syndrome 63
pme 9


External Ids:

Disease Ontology9 DOID:891
MeSH36 D020191
NCIt41 C7636

Related Diseases for Progressive Myoclonus Epilepsy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Progressive Myoclonus Epilepsy family:

Myoclonus Epilepsy

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy, lafora type31.2NHLRC1, EPM2A
2lafora disease30.7NHLRC1, EPM2A, CSTB
3epilepsy syndrome30.4CSTB, EPM2A, NHLRC1, CLN5
4neuronal ceroid-lipofuscinoses30.3CLN5
5myoclonus epilepsy11.3
6myoclonus11.3
7prickle1-related progressive myoclonus epilepsy with ataxia10.7
8neuronitis10.6
9ataxia10.6
10unverricht-lundborg syndrome10.5
11muscular atrophy10.4
12spinal muscular atrophy10.4
13epilepsy progressive myoclonic type 310.3
14epilepsy, progressive myoclonic 4, with or without renal failure10.3
15neuropathy10.3
16peripheral neuropathy10.3
17progressive myoclonic epilepsy 3 with or without intracellular inclusions10.3
18mental retardation10.3
19spinal muscular atrophy with progressive myoclonic epilepsy10.2
20gaucher's disease10.2
21lennox-gastaut syndrome10.2
22dystonia10.2
23nephrotic syndrome10.2
24epilepsy, familial adult myoclonic, 510.2
25ceroid lipofuscinosis, neuronal, kufs type, adult onset10.2
26ramsay-hunt syndrome10.2
27dentatorubral-pallidoluysian atrophy10.2
28alzheimer's disease10.2
29mucolipidosis10.2
30friedreich ataxia10.2
31myotonic dystrophy type 210.2
32fragile x syndrome10.2
33glycogen storage disease10.2
34hepatitis10.2
35myopathy10.2
36myotonic dystrophy10.2
37spinocerebellar ataxia10.2
38spinocerebellar ataxia type 810.2
39progressive myoclonic epilepsy 610.2
40progressive myoclonic epilepsy 510.2
41epilepsy, progressive myoclonic 2b10.2
42epileptic encephalopathy, early infantile, 1610.2
43epilepsy, progressive myoclonic 1a10.2
44blindness10.2
45early myoclonic encephalopathy10.0CSTB, EPM2A
46dementia10.0EPM2A, CLN5, NHLRC1

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



Diseases related to progressive myoclonus epilepsy

Symptoms for Progressive Myoclonus Epilepsy

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

612437,613832,254900,611726,614018,310370

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Progressive Myoclonus Epilepsy

Drug clinical trials:

Search ClinicalTrials for Progressive Myoclonus Epilepsy

Search NIH Clinical Center for Progressive Myoclonus Epilepsy

Search CenterWatch for Progressive Myoclonus Epilepsy

Genetic Tests for Progressive Myoclonus Epilepsy

About this section

Anatomical Context for Progressive Myoclonus Epilepsy

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy:

34
Brain, Cortex

Animal Models for Progressive Myoclonus Epilepsy or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3EPM2A, NHLRC1
2MP:00053699.1CSTB, EPM2A, NHLRC1
3MP:00030129.1NHLRC1, PRICKLE1, CSTB
4MP:00053868.8PRICKLE1, CSTB, NHLRC1, EPM2A
5MP:00053848.7CSTB, PRICKLE1, NHLRC1, EPM2A
6MP:00036318.3CSTB, NHLRC1, CLN5, EPM2A, PRICKLE1

Publications for Progressive Myoclonus Epilepsy

About this section
Sources:
53PubMed
See all sources

Articles related to Progressive Myoclonus Epilepsy:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (23449775)
2013
2
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. (23601850)
2013
3
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. (23325613)
2013
4
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. (24262466)
2013
5
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. (22703635)
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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Progressive Myoclonus Epilepsy:

1
id Gene Name 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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Progressive Myoclonus Epilepsy

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

Pathways for genes affiliated with Progressive Myoclonus Epilepsy

About this section
Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database
See all sources

Pathways related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6EPM2A, NHLRC1
2
Show member pathways
malate-aspartate shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
9.6EPM2A, NHLRC1

Compounds for genes affiliated with Progressive Myoclonus Epilepsy

About this section

GO Terms for genes affiliated with Progressive Myoclonus Epilepsy

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057838.8EPM2A, CLN5, NHLRC1
2cytosolGO:0058298.4PRICKLE1, EPM2A, NHLRC1, KCTD7

Biological processes related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:0059789.6EPM2A, NHLRC1
2positive regulation of protein ubiquitinationGO:0313989.6PRICKLE1, NHLRC1
3glucose metabolic processGO:0060069.3EPM2A, NHLRC1
4cell deathGO:0082199.1CLN5, KCTD7

Products for genes affiliated with Progressive Myoclonus Epilepsy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive Myoclonus Epilepsy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet