MCID: MYC026
MIFTS: 40

Myoclonus Epilepsy malady

Summaries for Myoclonus Epilepsy

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33MalaCards
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MalaCards: Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to progressive myoclonus epilepsy, lafora type and lafora disease. An important gene associated with Myoclonus Epilepsy is PRICKLE1 (prickle homolog 1 (Drosophila)), and among its related pathways is Lysosome. The drug clonazepam and the compounds cl 100 and p-nitrophenyl phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum, and related mouse phenotypes are nervous system and behavior/neurological.

Aliases & Classifications for Myoclonus Epilepsy

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

myoclonus epilepsy 43
epilepsies, myoclonic 61


Related Diseases for Myoclonus Epilepsy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the progressive myoclonus epilepsy family:

myoclonus epilepsy

Diseases related to 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 type31.0EPM2A, NHLRC1
2lafora disease30.8CSTB, DUSP13, CDKN3, EPM2A, CLN3, ACP1
3early myoclonic encephalopathy30.0EPM2A, CSTB
4neuronal ceroid-lipofuscinoses30.0CLN5, CLN3, CLN6
5myoclonus11.3
6prickle1-related progressive myoclonus epilepsy with ataxia10.6
7ataxia10.5
8myoclonic astatic epilepsy10.5
9merrf syndrome10.4
10visual epilepsy10.4
11unverricht-lundborg syndrome10.3
12n syndrome10.3
13epilepsy, myoclonic, familial adult, 310.3
14dentatorubral-pallidoluysian atrophy10.3
15mental retardation epilepsy10.3
16myoclonus epilepsy partial seizure10.3
17mental retardation10.3
18dentatorubral atrophy10.3
19familial infantile myoclonic epilepsy10.2
20epilepsy, myoclonic, adult familial, 210.2
21epilepsy, myoclonic, adult familial, 110.2
22parkinson's disease10.2
23cerebellar degeneration10.2
24lip disease10.2
25juvenile myoclonic epilepsy10.0
26ejm3-related juvenile myoclonic epilepsy10.0
27ejm4-related juvenile myoclonic epilepsy10.0
28niemann-pick disease10.0
29childhood absence epilepsy10.0
30status epilepticus10.0
31gaucher's disease10.0
32mucolipidosis10.0
33friedreich ataxia10.0
34juvenile absence epilepsy10.0
35pick's disease10.0
36multiple symmetric lipomatosis10.0
37anxiety disorder10.0
38spinocerebellar ataxia10.0
39micro syndrome10.0
40niemann–pick disease10.0
41mitochondrial disorders10.0
42niemann-pick disease type d10.0
43chorea10.0
44myoclonus, familial cortical10.0
45epilepsy syndrome10.0EPM2AIP1
46batten disease10.0CLN3, CLN5
47bubonic plague10.0CDKN3, ACP1
48dementia10.0SERPINI1, NHLRC1, EPM2A, CLN5
49late-infantile neuronal ceroid lipofuscinosis10.0CLN6, CLN5, CLN3
50neuronal ceroid lipofuscinosis10.0CLN6, CLN5, CLN3

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



Diseases related to myoclonus epilepsy

Clinical Features for Myoclonus Epilepsy

Drugs & Therapeutics for Myoclonus Epilepsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Myoclonus Epilepsy

Drug clinical trials:

Search ClinicalTrials for Myoclonus Epilepsy

Search NIH Clinical Center for Myoclonus Epilepsy

Search CenterWatch for Myoclonus Epilepsy

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Myoclonus Epilepsy

Anatomical Context for Myoclonus Epilepsy

Sources:
33MalaCards
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MalaCards organs/tissues related to Myoclonus Epilepsy:

33
Brain, Cortex, Cerebellum, Skeletal muscle, Small intestine, T cells, B cells, Globus pallidus, Tongue

Animal Models for Myoclonus Epilepsy or affiliated genes

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.8SCARB2, PRICKLE1, EPM2A, CLN6, CLN3, CLN5
2MP:00053869.5NHLRC1, CSTB, SCARB2, PRICKLE1, EPM2A, CLN6

Publications for Myoclonus Epilepsy

Sources:
51PubMed
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Articles related to Myoclonus Epilepsy:

(show top 50)    (show all 320)
idTitleAuthorsYear
1
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (24297365)
2013
2
Progressive myoclonus epilepsy. (23622396)
2013
3
Myoclonus and epilepsy. (23622214)
2013
4
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. (23955123)
2013
5
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. (23803304)
2013
6
Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan. (24184691)
2013
7
Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. (21435071)
2011
8
Gaucher disease patient with myoclonus epilepsy and a novel mutation. (20004867)
2010
9
Sleep-related tongue biting may not be a sign of epilepsy: a case of sleep-related faciomandibular myoclonus. (19125838)
2009
10
Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome. (19597094)
2009
11
Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. (19420257)
2009
12
Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus. (19527185)
2009
13
Unverricht-Lundborg progressive myoclonus epilepsy in Oman. (18358403)
2008
14
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. (17952067)
2007
15
Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451)
2007
16
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
17
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. (14526183)
2003
18
Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia. (14526165)
2003
19
Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR. (11160915)
2001
20
Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt. (10477264)
1999
21
Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. (10514826)
1999
22
Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. (9533783)
1998
23
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
24
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. (9778262)
1998
25
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
26
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). (9012407)
1997
27
Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. (8909441)
1996
28
Progressive myoclonus epilepsy with focal brainstem degeneration and paternal inheritance. An autopsy report of 4 cases from 2 pedigrees. (8925594)
1996
29
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. (8541857)
1995
30
Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family. (8116340)
1993
31
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (1463006)
1992
32
Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. (1957976)
1991
33
Simple detection of tRNA(Lys) mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer. (1682854)
1991
34
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). (1899320)
1991
35
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (2118240)
1990
36
Autonomic nervous system function in Baltic myoclonus epilepsy. (2116965)
1990
37
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. (3356526)
1988
38
Myoclonus epilepsy in two brothers. Clinical features and neuropathology of a unique syndrome. (3087570)
1986
39
"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. (6137660)
1983
40
Progressive myoclonus epilepsy is not accompanied by humoral immune response within the central nervous system. (6801912)
1982
41
Electrophysiological signs of peripheral nerve dysfunction in progressive myoclonus epilepsy. (6798815)
1981
42
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. (6774061)
1980
43
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. (109240)
1979
44
Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate. (105091)
1978
45
Focal reflex epilepsy with myoclonus; electrophysiological investigation and therapeutic implications. (64353)
1977
46
Progressive familial myoclonus epilepsy. (1185222)
1975
47
Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. (4979532)
1969
48
Myoclonus epilepsy with Lafora bodies. An ultrastruc- tural and cytochemical study. (4877594)
1968
49
Effect of thalamotomy on the EEG in progressive myoclonus epilepsy. (4966756)
1967
50
Myoclonus epilepsy. (18890635)
1948

Genetic Variations for Myoclonus Epilepsy

Expression for genes affiliated with Myoclonus Epilepsy

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

Search GEO for disease gene expression data for Myoclonus Epilepsy.

Pathways for genes affiliated with Myoclonus Epilepsy

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CLN5, CLN3, SCARB2

Compounds for genes affiliated with Myoclonus Epilepsy

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

idCompoundScoreTop Affiliating Genes
1cl 1004510.3ACP1, CDKN3, DUSP13
2p-nitrophenyl phosphate4510.3ACP1, CDKN3
3tungstate4510.3ACP1, DUSP13
4phosphothreonine4510.2DUSP13, CDKN3, ACP1
5glycogen45 2411.1NHLRC1, PPP1R3C, GYS1, CDKN3, EPM2A, EIF2B5
6phosphoserine45 2411.1DUSP13, CDKN3, ACP1
7sodium stibogluconate45 1111.0ACP1, CDKN3

GO Terms for genes affiliated with Myoclonus Epilepsy

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00578310.0NHLRC1, CLN5, CLN3, CLN6, EPM2AIP1, EPM2A

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

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00597810.3PPP1R3C, GYS1
2lysosomal lumen acidificationGO:00704210.2CLN5, CLN3, CLN6
3protein catabolic processGO:03016310.1CLN6, CLN3, CLN5
4cell deathGO:0082199.8KCTD7, CLN6, CLN3, CLN5

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00813810.2DUSP13, CDKN3, EPM2A
2protein tyrosine phosphatase activityGO:00472510.2EPM2A, DUSP13, CDKN3
3protein serine/threonine phosphatase activityGO:00472210.1EPM2A, CDKN3, PPP1R3C
4protein bindingGO:0055159.1CLN6, SCARB2, PPP1R3C, PRICKLE1, GYS1, TRAPPC10

Products for genes affiliated with Myoclonus Epilepsy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 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