MCID: PRG011
MIFTS: 37

Progressive Myoclonus Epilepsy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Progressive Myoclonus Epilepsy

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Aliases & Descriptions for Progressive Myoclonus Epilepsy:

Name: Progressive Myoclonus Epilepsy 10 12
Familial Progressive Myoclonic Epilepsy 45 65
Progressive Myoclonic Epilepsy 10 45
 
Myoclonic Epilepsies, Progressive 65
Unverricht-Lundborg Syndrome 65
Pme 10


Classifications:



External Ids:

Disease Ontology10 DOID:891
MeSH36 D020191
NCIt42 C7636

Summaries for Progressive Myoclonus Epilepsy

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NIH Rare Diseases:45 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 based summary: Progressive Myoclonus Epilepsy, also known as familial progressive myoclonic epilepsy, is related to epilepsy, progressive myoclonic 2b and myoclonus epilepsy. An important gene associated with Progressive Myoclonus Epilepsy is CSTB (Cystatin B (Stefin B)), and among its related pathways is Glycogen storage diseases. Affiliated tissues include brain and cortex, and related mouse phenotypes are muscle and nervous system.

Wikipedia:68 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

Related Diseases for Progressive Myoclonus Epilepsy

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Diseases in the Myoclonus Epilepsy family:

progressive myoclonus epilepsy

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, progressive myoclonic 2b30.0CSTB, EPM2A, GBE1, NHLRC1, PARK2
2myoclonus epilepsy11.3
3myoclonus11.3
4spinal muscular atrophy with progressive myoclonic epilepsy10.8
5progressive myoclonus epilepsy, lafora type10.8
6prickle1-related progressive myoclonus epilepsy with ataxia10.8
7ataxia10.6
8epilepsy, progressive myoclonic 1a10.6
9neuronitis10.6
10spinal muscular atrophy10.5
11muscular atrophy10.5
12epilepsy, progressive myoclonic 4, with or without renal failure10.5
13unverricht-lundborg syndrome10.5
14epilepsy, progressive myoclonic 610.4
15ceroid lipofuscinosis, neuronal, kufs type, adult onset10.3
16gaucher's disease10.3
17epilepsy, progressive myoclonic 510.3
18epilepsy syndrome10.3
19neuropathy10.3
20peripheral neuropathy10.3
21encephalopathy10.3
22leigh syndrome10.2
23encephalopathy, familial, with neuroserpin inclusion bodies10.2
24peeling skin syndrome 210.2
25exfoliation syndrome10.2
26ataxia, spastic, 5, autosomal recessive10.2
27epilepsy, progressive myoclonic, 910.2
28lennox-gastaut syndrome10.2
29visual epilepsy10.2
30early myoclonic encephalopathy10.2
31peeling skin syndrome10.2
32auditory system disease10.2
33autosomal genetic disease10.2
34autosomal recessive disease10.2
35basal ganglia disease10.2
36central nervous system disease10.2
37dystonia10.2
38nephrotic syndrome10.2
39reflex epilepsy10.2
40genetic brain disorders10.2
41brainstem auditory evoked responses10.2
42genetic reflex epilepsy10.2
43seizure disorder10.2
44ramsay hunt syndrome10.2
45peeling skin syndrome type a10.2
46epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.2
47friedreich ataxia10.2
48epilepsy, progressive myoclonic 710.2
49epilepsy, progressive myoclonic, 810.2
50fragile x syndrome10.2

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



Diseases related to progressive myoclonus epilepsy

Symptoms for Progressive Myoclonus Epilepsy

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Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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Drugs for Progressive Myoclonus Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
2
DopamineapprovedPhase 2281462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
Ropiniroleapproved, investigationalPhase 27291374-20-8, 91374-21-95095, 497540
Synonyms:
1,3-Dihydro-4-(2-(dipropylamino)ethyl)-2H-indol-2-one monohydrochloride
2(H)-Indol-2-one, 4-(2-(dipropylamino)ethyl)-1,3-dihydro-, monohydrochloride
2H-Indol-2-one, 1,3-dihydro-4-(2-(dipropylamino)ethyl)-, monohydrochloride
2H-Indol-2-one, 4-[2-(dipropylamino)ethyl]-1,3-dihydro-, hydrochloride (1:1)
4-(2-(Dipropylamino)ethyl)-2-indolinone monohydrochloride
4-[2-(Dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one
4-[2-(Dipropylamino)ethyl]indoline-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one hydrochloride
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one hydrochloride
91374-20-8
91374-20-8 (hydrochloride)
91374-21-9
91374-21-9 (Parent)
AB1004799
AC-735
AC1L1JLL
AC1L2ABS
AC1Q3EQJ
AR-1L3132
Adartrel
BIDD:GT0826
BRD-K15933101-003-01-2
C07564
CHEBI:8888
CHEMBL1200411
CHEMBL589
CID5095
CID68727
D00784
D08489
DB00268
EU-0101101
HMS2093K04
I06-0692
I06-0693
JZP-7
L000520
LS-83828
LS-83890
Lopac-R-4152
Lopac0_001101
MolPort-003-666-598
MolPort-003-987-439
NCGC00015893-01
NCGC00015893-04
 
NCGC00094373-01
NCGC00096064-01
NCGC00096064-02
NVD-434
R 4152
ReQuip
ReQuip CR
ReQuip LP
ReQuip XL
ReQuip XR
Repreve
Requip
Requip (TN)
Requip XL
Ropinirol
Ropinirol [INN-Spanish]
Ropinirole
Ropinirole (INN)
Ropinirole 12 mg
Ropinirole 2 mg
Ropinirole 4 mg
Ropinirole 6 mg
Ropinirole 8 mg
Ropinirole HCl
Ropinirole Hydrochloride
Ropinirole [INN:BAN]
Ropinirole hydrochloride
Ropinirole hydrochloride (JAN/USAN)
Ropinirole hydrochloride [USAN]
Ropinirolum
Ropinirolum [INN-Latin]
Ropitor
Ropitor (TN)
SK&F 101468
SK&F 101468-A
SK&F-101,468
SK&F-101468-A
SK&F-101468A
SKF 101468
SKF 101468-A
SPECTRUM1505178
ST51051236
TL8005858
TL8005859
UNII-030PYR8953
UNII-D7ZD41RZI9
ropinirol
4Dopamine AgonistsPhase 2476
5Insulin, Globin Zinc4069
6insulin4069

Interventional clinical trials:

idNameStatusNCT IDPhase
1Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and AdultsCompletedNCT00368251Phase 3
2Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and AdultsCompletedNCT00357669Phase 3
3Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
4Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg TypeEnrolling by invitationNCT00639119Phase 2
5A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
6Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
7Ketogenic Diet in Lafora DiseaseCompletedNCT00007124
8Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

Search NIH Clinical Center for Progressive Myoclonus Epilepsy

Genetic Tests for Progressive Myoclonus Epilepsy

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Anatomical Context for Progressive Myoclonus Epilepsy

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MalaCards organs/tissues related to Progressive Myoclonus Epilepsy:

33
Brain, Cortex

Animal Models for Progressive Myoclonus Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0CSTB, EPM2A, GBE1, NHLRC1, PARK2
2MP:00036318.0CSTB, EPM2A, GBE1, NHLRC1, PARK2, PRICKLE1
3MP:00053867.6CSTB, EPM2A, NHLRC1, PARK2, PRICKLE1, SCARB2

Publications for Progressive Myoclonus Epilepsy

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Articles related to Progressive Myoclonus Epilepsy:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. (25954030)
2015
2
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. (25327891)
2014
3
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (23449775)
2013
4
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. (23601850)
2013
5
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. (23325613)
2013
6
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. (24262466)
2013
7
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
8
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
9
Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies. (21482188)
2011
10
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
11
Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). (19321308)
2009
12
The autosomal recessively inherited progressive myoclonus epilepsies and their genes. (19469843)
2009
13
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727)
2008
14
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. (17452581)
2007
15
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. (17952067)
2007
16
Levetiracetam in three cases of progressive myoclonus epilepsy. (17242859)
2007
17
Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy. (17054687)
2006
18
Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. (15508913)
2005
19
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
20
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
21
Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). (12934064)
2003
22
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. (12960212)
2003
23
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. (12484571)
2002
24
Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n. (11697735)
2001
25
Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy. (11198301)
2001
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

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Clinvar genetic disease variations for Progressive Myoclonus Epilepsy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CSTBNM_000100.3(CSTB): c.-210_-199(30_125)NT expansionPathogenicrs386833438GRCh37Chr 21, 45196349: 45196360
2CSTBNM_000100.3(CSTB): c.67-1G> Csingle nucleotide variantPathogenicrs147484110GRCh37Chr 21, 45194641: 45194641
3CSTBNM_000100.3(CSTB): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs74315442GRCh37Chr 21, 45194178: 45194178
4CSTBNM_000100.3(CSTB): c.10G> C (p.Gly4Arg)single nucleotide variantPathogenicrs74315443GRCh37Chr 21, 45196141: 45196141
5CSTBNM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3)NT expansionPathogenicrs193922905GRCh37Chr 21, 45196360: 45196371
6CSTBCSTB, 2-BP DEL, 2404TCdeletionPathogenic
7CSTBNM_000100.3(CSTB): c.212A> C (p.Gln71Pro)single nucleotide variantPathogenicrs121909346GRCh37Chr 21, 45194168: 45194168

Expression for genes affiliated with Progressive Myoclonus Epilepsy

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

Pathways for genes affiliated with Progressive Myoclonus Epilepsy

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Pathways related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9EPM2A, NHLRC1

GO Terms for genes affiliated with Progressive Myoclonus Epilepsy

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Cellular components related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.8EPM2A, GBE1, KCTD7, NHLRC1, PARK2, PRICKLE1

Biological processes related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glycogen metabolic processGO:000597710.2EPM2A, GBE1
2positive regulation of proteasomal ubiquitin-dependent protein catabolic processGO:003243610.1PARK2, PRICKLE1
3positive regulation of protein ubiquitinationGO:003139810.0NHLRC1, PRICKLE1
4glycogen biosynthetic processGO:00059789.8EPM2A, GBE1, NHLRC1
5adult locomotory behaviorGO:00083449.8CSTB, PARK2
6glucose metabolic processGO:00060069.1EPM2A, GBE1, NHLRC1
7intra-Golgi vesicle-mediated transportGO:00068919.0GOSR2, TRAPPC10
8COPII vesicle coatingGO:00482088.9GOSR2, TRAPPC10

Sources for Progressive Myoclonus Epilepsy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet