MCID: MYC026
MIFTS: 36

Myoclonus Epilepsy malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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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 and progressive myoclonus epilepsy, lafora type. An important gene associated with Myoclonus Epilepsy is PRICKLE1 (prickle homolog 1 (Drosophila)), and among its related pathways is Glucose metabolism. The drug clonazepam and the compound glycogen have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skeletal muscle, and related mouse phenotypes are behavior/neurological and nervous system.

Aliases & Classifications for Myoclonus Epilepsy

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43NIH Rare Diseases, 62UMLS
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Classifications:

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


Aliases & Descriptions:

myoclonus epilepsy 43
epilepsies, myoclonic 62


Related Diseases for Myoclonus Epilepsy

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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 57)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy31.7PRICKLE1, CSTB, EPM2A, NHLRC1
2progressive myoclonus epilepsy, lafora type31.0NHLRC1, EPM2A
3lafora disease30.6CSTB, EPM2A, NHLRC1
4epilepsy syndrome30.1CLN5, EPM2A, CSTB, NHLRC1
5neuronal ceroid-lipofuscinoses30.0CLN5
6dementia30.0EPM2A, CLN5, NHLRC1
7myoclonus11.3
8prickle1-related progressive myoclonus epilepsy with ataxia10.6
9ataxia10.5
10neuronitis10.5
11merrf syndrome10.5
12unverricht-lundborg syndrome10.4
13dentatorubral-pallidoluysian atrophy10.3
14mental retardation10.3
15parkinson's disease10.2
16myopathy10.2
17neuropathy10.2
18peripheral neuropathy10.2
19mitochondrial disorders10.2
20myoclonus epilepsy partial seizure10.2
21progressive myoclonic epilepsy 3 with or without intracellular inclusions10.2
22childhood absence epilepsy10.0
23dravet syndrome10.0
24alzheimer's disease10.0
25multiple symmetrical lipomatosis10.0
26mucolipidosis10.0
27friedreich ataxia10.0
28myotonic dystrophy type 210.0
29fragile x syndrome10.0
30multiple symmetric lipomatosis10.0
31niemann-pick disease10.0
32anxiety disorder10.0
33cerebellar ataxia10.0
34glomerulosclerosis10.0
35glycogen storage disease10.0
36hepatitis10.0
37idiopathic generalized epilepsy10.0
38lactic acidosis10.0
39lipoma10.0
40lipomatosis10.0
41myotonic dystrophy10.0
42spinocerebellar ataxia10.0
43spinocerebellar ataxia type 810.0
44familial infantile myoclonic epilepsy10.0
45progressive myoclonic epilepsy 610.0
46progressive myoclonic epilepsy 510.0
47chorea10.0
48epilepsy, familial adult myoclonic, 510.0
49epilepsy, juvenile myoclonic 810.0
50epilepsy, progressive myoclonic 2b10.0

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



Diseases related to myoclonus epilepsy

Symptoms for Myoclonus Epilepsy

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Drugs & Therapeutics for Myoclonus Epilepsy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Myoclonus Epilepsy

Search NIH Clinical Center for Myoclonus Epilepsy

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Myoclonus Epilepsy

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Anatomical Context for Myoclonus Epilepsy

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33MalaCards
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MalaCards organs/tissues related to Myoclonus Epilepsy:

33
Brain, Cortex, Skeletal muscle, Globus pallidus

Animal Models for Myoclonus Epilepsy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Myoclonus Epilepsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.4NHLRC1, EPM2A, PRICKLE1, CSTB, EIF2B5
2MP:00036317.2NHLRC1, CLN5, EPM2A, PRICKLE1, CSTB, EIF2B5

Publications for Myoclonus Epilepsy

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52PubMed
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Articles related to Myoclonus Epilepsy:

(show top 50)    (show all 294)
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
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
4
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
5
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
6
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727)
2008
7
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. (17452581)
2007
8
Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. (16901431)
2006
9
Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy. (16379547)
2005
10
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
11
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
12
Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). (12934064)
2003
13
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. (12484571)
2002
14
Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n. (11697735)
2001
15
Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy. (11198301)
2001
16
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. (10721698)
2000
17
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (11175283)
2000
18
Abnormal reactivity of the approximately 20-Hz motor cortex rhythm in Unverricht Lundborg type progressive myoclonus epilepsy. (11112402)
2000
19
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. (9932960)
1999
20
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. (9989632)
1999
21
The molecular genetic bases of the progressive myoclonus epilepsies. (10514828)
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
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
25
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
26
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
27
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
28
Cortical hyperexcitability in progressive myoclonus epilepsy: a study with transcranial magnetic stimulation. (8423883)
1993
29
Buspirone in progressive myoclonus epilepsy. (7679141)
1993
30
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder. (8454287)
1993
31
Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. (1957976)
1991
32
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (2118240)
1990
33
Autonomic nervous system function in Baltic myoclonus epilepsy. (2116965)
1990
34
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. (2508988)
1989
35
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. (3356526)
1988
36
Prolonged cortical somatosensory evoked potential latencies in progressive myoclonus epilepsy. (6431058)
1984
37
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
38
Clinical stages of progressive myoclonus epilepsy in adult patients. (6801911)
1982
39
Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with progressive myoclonus epilepsy. (6163302)
1980
40
Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy. (90138)
1979
41
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. (109240)
1979
42
Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate. (105091)
1978
43
Content and composition of urinary glycosaminoglycans in the patients with myoclonus epilepsy with and without Lafora bodies. (200053)
1977
44
Isolation and characterization of the glycopeptide from the urine of myoclonus epilepsy of Lafora-body type. (1212236)
1975
45
Findings in routine laboratory examination in progressive myoclonus epilepsy. (804227)
1975
46
Studies in myoclonus epilepsy. 3. The effects of amylolytic enzymes on the ultrastructure of Lafora bodies. (4104134)
1971
47
Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea. (4188951)
1970
48
PROGRESSIVE MYOCLONUS EPILEPSY AS AN INBORN ERROR OF METABOLISM COMPARABLE TO STORAGE DISEASE. (14092643)
1963
49
Hereditary myoclonus epilepsy; two cases with pathological findings. (18128978)
1949
50
Myoclonus Epilepsy. (19986289)
1928

Variations for Myoclonus Epilepsy

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Expression for genes affiliated with Myoclonus Epilepsy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myoclonus Epilepsy

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Pathways for genes affiliated with Myoclonus Epilepsy

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50PathCards, 55Reactome, 38NCBI BioSystems Database
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Pathways related to Myoclonus Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
malate-aspartate shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
9.7EPM2A, NHLRC1

Compounds for genes affiliated with Myoclonus Epilepsy

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

idCompoundScoreTop Affiliating Genes
1glycogen45 2410.2EIF2B5, EPM2A, NHLRC1

GO Terms for genes affiliated with Myoclonus Epilepsy

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057838.9EPM2A, CLN5, NHLRC1
2cytosolGO:0058297.9EIF2B5, PRICKLE1, EPM2A, NHLRC1, KCTD7

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

idNameGO IDScoreTop Affiliating Genes
1glucose metabolic processGO:0060069.7EPM2A, NHLRC1
2glycogen biosynthetic processGO:0059789.6EPM2A, NHLRC1
3positive regulation of protein ubiquitinationGO:0313989.5PRICKLE1, NHLRC1

Products for genes affiliated with Myoclonus Epilepsy

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Sources for Myoclonus Epilepsy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet