PME
MCID: PRG011
MIFTS: 42

Progressive Myoclonus Epilepsy (PME) malady

Summaries for Progressive Myoclonus Epilepsy

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: 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 is Lysosome. The compounds cl 100 and p-nitrophenyl phosphate have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and behavior/neurological.

Wikipedia:64 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

Description from OMIM:47 612437, 254900, 613832, 310370, 611726 614018 more

Aliases & Classifications for Progressive Myoclonus Epilepsy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 47OMIM, 57SNOMED-CT, 35MeSH, 40NCIt
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Aliases & Descriptions:

progressive myoclonus epilepsy 8 10
familial progressive myoclonic epilepsy 43 61
progressive myoclonic epilepsy 8 43
myoclonic epilepsies, progressive 61
unverricht-lundborg syndrome 61
pme 8


External Ids:

Disease Ontology8 DOID:891
MeSH35 D020191
NCIt40 C7636

Related Diseases for Progressive Myoclonus Epilepsy

Sources:
17GeneCards, 18GeneDecks
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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 top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy, lafora type31.1EPM2A, NHLRC1
2lafora disease31.0CLN3, ACP1, EPM2A, CDKN3, DUSP13, CSTB
3neuronal ceroid-lipofuscinoses30.2CLN5, CLN3, CLN6
4myoclonus11.3
5myoclonus epilepsy11.3
6prickle1-related progressive myoclonus epilepsy with ataxia10.7
7ataxia10.6
8progressive myoclonic epilepsy 3 with or without intracellular inclusions10.5
9progressive myoclonic epilepsy 610.5
10progressive myoclonic epilepsy 510.5
11epilepsy, progressive myoclonic 1a10.5
12progressive muscular atrophy10.4
13muscular atrophy10.4
14spinal muscular atrophy10.4
15epilepsy, progressive myoclonic 2b10.4
16unverricht-lundborg syndrome10.4
17visual epilepsy10.4
18epilepsy progressive myoclonic type 310.3
19epilepsy, progressive myoclonic 4, with or without renal failure10.3
20n syndrome10.3
21mental retardation epilepsy10.3
22mental retardation10.3
23spinal muscular atrophy with progressive myoclonic epilepsy10.3
24lennox-gastaut syndrome10.2
25adult syndrome10.2
26dystonia 110.2
27dystonia 1610.2
28epm2a-related lafora disease10.2
29nhlrc1-related lafora disease10.2
30epilepsy, familial adult myoclonic, 510.2
31ceroid lipofuscinosis, neuronal, kufs type, adult onset10.2
32epileptic encephalopathy, early infantile, 1610.2
33ramsay-hunt syndrome10.2
34status epilepticus10.1
35gaucher's disease10.1
36mucolipidosis10.1
37friedreich ataxia10.1
38dentatorubral-pallidoluysian atrophy10.1
39spinocerebellar ataxia10.1
40myoclonus epilepsy partial seizure10.1
41dentatorubral atrophy10.1
42lip disease10.1
43epilepsy syndrome10.0EPM2AIP1
44batten disease10.0CLN5, CLN3
45bubonic plague10.0ACP1, CDKN3
46cowden disease10.0CDKN3
47dementia10.0EPM2A, NHLRC1, SERPINI1, CLN5
48late-infantile neuronal ceroid lipofuscinosis10.0CLN3, CLN6, CLN5
49early myoclonic encephalopathy10.0CSTB, EPM2A
50neuronal ceroid lipofuscinosis10.0CLN5, CLN6, CLN3

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



Diseases related to progressive myoclonus epilepsy

Clinical Features for Progressive Myoclonus Epilepsy

Sources:
47OMIM
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Clinical features from OMIM:

612437,254900,613832,310370,611726,614018

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Progressive Myoclonus Epilepsy

Animal Models for Progressive Myoclonus Epilepsy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.4SCARB2, PRDM8, PRICKLE1, EPM2A, CLN6, CLN3
2MP:00053869.1NHLRC1, CSTB, SCARB2, PRDM8, PRICKLE1, EPM2A

Publications for Progressive Myoclonus Epilepsy

Sources:
51PubMed
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Articles related to Progressive Myoclonus Epilepsy:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). (23642573)
2013
2
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses (22787658)
2012
3
Progressive myoclonus epilepsy of Lafora (22787674)
2012
4
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. (22036712)
2012
5
Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. (21435071)
2011
6
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
7
Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). (19321308)
2009
8
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. (18266750)
2008
9
Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate. (18263761)
2008
10
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. (17952067)
2007
11
Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451)
2007
12
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. (15483648)
2005
13
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. (15742102)
2005
14
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. (14722920)
2004
15
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. (15102711)
2004
16
Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). (12934064)
2003
17
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. (12019207)
2002
18
Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. (12452481)
2002
19
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. (10721698)
2000
20
Abnormal reactivity of the approximately 20-Hz motor cortex rhythm in Unverricht Lundborg type progressive myoclonus epilepsy. (11112402)
2000
21
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. (10932264)
2000
22
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. (9989632)
1999
23
Zonisamide for progressive myoclonus epilepsy: long-term observations in seven patients. (9477142)
1998
24
Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type. (9814834)
1998
25
Successful treatment of progressive myoclonus epilepsy with TRH. (9650689)
1998
26
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
27
Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. (9345091)
1997
28
Progressive myoclonus epilepsy in young adults with neuropathologic features of Alzheimer's disease. (9409382)
1997
29
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). (9012407)
1997
30
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
31
Progressive myoclonus epilepsy with focal brainstem degeneration and paternal inheritance. An autopsy report of 4 cases from 2 pedigrees. (8925594)
1996
32
Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. (7543407)
1995
33
A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3. (8530089)
1995
34
Cortical reactivity in progressive myoclonus epilepsy. (7510633)
1994
35
Progressive Myoclonus Epilepsy, Lafora Type (20301563)
1993
36
An overview of progressive myoclonus epilepsy in Japan. (8271547)
1993
37
Abolition of photoparoxysmal response in progressive myoclonus epilepsy. (1756763)
1991
38
Word deafness syndrome with lateralized, progressive action myoclonus, epilepsy and cerebellar signs. Coexistence of multifocal and system, asymmetrical CNS degeneration. (2518575)
1989
39
Progressive myoclonus epilepsy treated with zonisamide. (3130586)
1988
40
Visual evoked potentials, brainstem auditory evoked potentials, and quantitative EEG in Baltic progressive myoclonus epilepsy. (3093211)
1986
41
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
42
Clinical stages of progressive myoclonus epilepsy in adult patients. (6801911)
1982
43
Electroneuromyographical and morphological findings in progressive myoclonus epilepsy (PME). (6819758)
1982
44
Transient effect of L-tryptophan in progressive myoclonus epilepsy without Lafora bodies: clinical and electrophysiological study. (6772434)
1980
45
Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate. (105091)
1978
46
Oligoclonal IgG and virus antibodies in cerebrospinal fluid in progressive myoclonus epilepsy. (117579)
1978
47
Progressive familial myoclonus epilepsy. (1185222)
1975
48
Progressive myoclonus epilepsy. Electroencephalographical findings. (4835646)
1974
49
Clinical, electroencephalographical and neuropharmacological studies in syndromes of progressive myoclonus epilepsy. (4317270)
1970
50
PROGRESSIVE MYOCLONUS EPILEPSY WITH LAFORA BODIES. CLINICAL-PATHOLOGICAL FEATURES. (14092647)
1963

Genetic Variations for Progressive Myoclonus Epilepsy

Expression for genes affiliated with Progressive Myoclonus Epilepsy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
30KEGG
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Pathways related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CLN5, CLN3, SCARB2

Compounds for genes affiliated with Progressive Myoclonus Epilepsy

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cl 1004510.2DUSP13, CDKN3, ACP1
2p-nitrophenyl phosphate4510.2CDKN3, ACP1
3tungstate4510.2DUSP13, ACP1
4phosphothreonine4510.2DUSP13, CDKN3, ACP1
5glycogen45 2411.0NHLRC1, PPP1R3C, EIF2B5, EPM2A, CDKN3
6phosphoserine45 2410.9DUSP13, ACP1, CDKN3
7sodium stibogluconate45 1110.9CDKN3, ACP1

GO Terms for genes affiliated with Progressive Myoclonus Epilepsy

Sources:
16Gene Ontology
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Cellular components related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057839.8NHLRC1, CLN5, CLN3, CLN6, EPM2AIP1, EPM2A

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumen acidificationGO:00704210.0CLN5, CLN3, CLN6
2cell deathGO:00821910.0KCTD7, CLN3, CLN5, CLN6
3protein catabolic processGO:0301639.8CLN3, CLN5, CLN6

Molecular functions related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00813810.1DUSP13, CDKN3, EPM2A
2protein serine/threonine phosphatase activityGO:00472210.0EPM2A, CDKN3, PPP1R3C
3protein tyrosine phosphatase activityGO:0047259.8CDKN3, DUSP13, EPM2A
4protein bindingGO:0055159.1SCARB2, PPP1R3C, PRICKLE1, TRAPPC10, CDKN3, EPM2A

Products for genes affiliated with Progressive Myoclonus Epilepsy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive Myoclonus Epilepsy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet