PME
MCID: PRG011
MIFTS: 46

Progressive Myoclonus Epilepsy (PME) malady

Genetic diseases category

Summaries for Progressive Myoclonus Epilepsy

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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. Affiliated tissues include brain and cortex, and related mouse phenotypes are nervous system and behavior/neurological.

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

Description from OMIM:46 612437, 254900, 613832, 310370, 611726 614018 more

Aliases & Classifications for Progressive Myoclonus Epilepsy

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60UMLS, 8Disease Ontology, 10DISEASES, 42NIH Rare Diseases, 46OMIM, 56SNOMED-CT, 34MeSH, 39NCIt
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Classifications:

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


Aliases & Descriptions:

progressive myoclonus epilepsy 8 10
familial progressive myoclonic epilepsy 42 60
progressive myoclonic epilepsy 8 42
myoclonic epilepsies, progressive 60
unverricht-lundborg syndrome 60
pme 8


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Disease Ontology8 DOID:891
MeSH34 D020191
NCIt39 C7636

Related Diseases for Progressive Myoclonus Epilepsy

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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 56)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy, lafora type31.1NHLRC1, EPM2A
2lafora disease30.9CSTB, DUSP13, CDKN3, EPM2A, CLN3, ACP1
3epilepsy syndrome30.8EPM2AIP1
4neuronal ceroid-lipofuscinoses30.2CLN6, CLN3, CLN5
5prickle1-related progressive myoclonus epilepsy with ataxia10.7
6neuronitis10.5
7progressive myoclonic epilepsy 3 with or without intracellular inclusions10.5
8progressive myoclonic epilepsy 610.5
9progressive myoclonic epilepsy 510.5
10epilepsy, progressive myoclonic 1a10.5
11progressive muscular atrophy10.4
12muscular atrophy10.4
13spinal muscular atrophy10.4
14epilepsy, progressive myoclonic 2b10.4
15unverricht-lundborg syndrome10.4
16visual epilepsy10.4
17epilepsy progressive myoclonic type 310.3
18epilepsy, progressive myoclonic 4, with or without renal failure10.3
19neuropathy10.3
20peripheral neuropathy10.3
21spinal muscular atrophy with progressive myoclonic epilepsy10.2
22gaucher's disease10.1
23lennox-gastaut syndrome10.1
24adult syndrome10.1
25nephrotic syndrome10.1
26epm2a-related lafora disease10.1
27nhlrc1-related lafora disease10.1
28epilepsy, familial adult myoclonic, 510.1
29ceroid lipofuscinosis, neuronal, kufs type, adult onset10.1
30epileptic encephalopathy, early infantile, 1610.1
31status epilepticus10.1
32mucolipidosis10.1
33friedreich ataxia10.1
34dentatorubral-pallidoluysian atrophy10.1
35alzheimer's disease10.1
36fragile x syndrome10.1
37myotonic dystrophy type 210.1
38focal epilepsy10.1
39glycogen storage disease10.1
40hepatitis10.1
41myopathy10.1
42myotonic dystrophy10.1
43spinocerebellar ataxia10.1
44myotonic dystrophy type 110.1
45spinocerebellar ataxia type 810.1
46batten disease10.0CLN5, CLN3
47bubonic plague10.0ACP1, CDKN3
48cowden disease10.0CDKN3
49dementia10.0EPM2A, CLN5, SERPINI1, NHLRC1
50late-infantile neuronal ceroid lipofuscinosis10.0CLN6, CLN3, CLN5

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



Diseases related to progressive myoclonus epilepsy

Clinical Features for Progressive Myoclonus Epilepsy

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46OMIM
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Clinical features from OMIM:

612437,254900,613832,310370,611726,614018

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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Anatomical Context for Progressive Myoclonus Epilepsy

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32MalaCards
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MalaCards organs/tissues related to Progressive Myoclonus Epilepsy:

32
Brain, Cortex

Animal Models for Progressive Myoclonus Epilepsy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

36
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

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50PubMed
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Articles related to Progressive Myoclonus Epilepsy:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
2
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. (22369717)
2012
3
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
4
Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies. (21482188)
2011
5
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. (21670406)
2011
6
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. (21549339)
2011
7
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. (21505799)
2011
8
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
9
Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus. (19268538)
2009
10
Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. (19243074)
2009
11
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. (18266750)
2008
12
Unverricht-Lundborg progressive myoclonus epilepsy in Oman. (18358403)
2008
13
Advances in lafora progressive myoclonus epilepsy. (17764634)
2007
14
Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. (15508913)
2005
15
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. (14722920)
2004
16
A novel exon 1 mutation in a patient with atypical Lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. (15009235)
2004
17
Mutations in NHLRC1 cause progressive myoclonus epilepsy. (12958597)
2003
18
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
19
Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease. (11968446)
2002
20
Advances in the genetics of progressive myoclonus epilepsy. (11579433)
2001
21
Abnormal reactivity of the approximately 20-Hz motor cortex rhythm in Unverricht Lundborg type progressive myoclonus epilepsy. (11112402)
2000
22
Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons. (10792446)
2000
23
Progressive myoclonus epilepsy of Unverricht-Lundborg type. (10446747)
1999
24
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). (9931343)
1999
25
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
26
Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type. (9814834)
1998
27
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. (9126745)
1997
28
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
29
Progressive myoclonus epilepsy with focal brainstem degeneration and paternal inheritance. An autopsy report of 4 cases from 2 pedigrees. (8925594)
1996
30
A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3. (8893822)
1996
31
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. (7633421)
1995
32
Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations. (7614918)
1995
33
Cortical reactivity in progressive myoclonus epilepsy. (7510633)
1994
34
Effect of alcohol on action myoclonus in Lance-Adams syndrome and progressive myoclonus epilepsy. (1622502)
1992
35
Abolition of photoparoxysmal response in progressive myoclonus epilepsy. (1756763)
1991
36
Infant-onset progressive myoclonus epilepsy. (1904460)
1991
37
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. (1673790)
1991
38
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (2118240)
1990
39
Visual evoked potentials, brainstem auditory evoked potentials, and quantitative EEG in Baltic progressive myoclonus epilepsy. (3093211)
1986
40
Cochleovestibular investigation in progressive myoclonus epilepsy. (6407282)
1983
41
Clinical stages of progressive myoclonus epilepsy in adult patients. (6801911)
1982
42
Electroneuromyographical and morphological findings in progressive myoclonus epilepsy (PME). (6819758)
1982
43
Valproate and clonazepam in the treatment of severe progressive myoclonus epilepsy. (6803743)
1982
44
Myopathological findings in progressive myoclonus epilepsy. (6261519)
1981
45
Deficient intestinal absorption of L-tryptophan in progressive myoclonus epilepsy without Lafora bodies. (6157783)
1980
46
Uptake of taurine, GABA, 5-HT, and dopamine by blood platelets in progressive myoclonus epilepsy. (38959)
1979
47
Progressive myoclonus epilepsy. Electroencephalographical findings. (4835646)
1974
48
Progressive myoclonus epilepsy. A clinical and histopathological study. (4835645)
1974
49
Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. (4979532)
1969
50
Effect of thalamotomy on the EEG in progressive myoclonus epilepsy. (4966756)
1967

Genetic Variations for Progressive Myoclonus Epilepsy

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Expression for genes affiliated with Progressive Myoclonus Epilepsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Progressive Myoclonus Epilepsy

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Pathways for genes affiliated with Progressive Myoclonus Epilepsy

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29KEGG
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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

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Progressive Myoclonus Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cl 1004410.2ACP1, CDKN3, DUSP13
2p-nitrophenyl phosphate4410.2ACP1, CDKN3
3tungstate4410.2ACP1, DUSP13
4phosphothreonine4410.2ACP1, CDKN3, DUSP13
5glycogen44 2411.0PPP1R3C, CDKN3, EPM2A, EIF2B5, NHLRC1
6phosphoserine44 2410.9DUSP13, CDKN3, ACP1
7sodium stibogluconate44 1110.9ACP1, CDKN3

GO Terms for genes affiliated with Progressive Myoclonus Epilepsy

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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:00821910.0CLN5, CLN3, CLN6, KCTD7
3protein catabolic processGO:0301639.8CLN6, CLN3, CLN5

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive Myoclonus Epilepsy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet