MCID: PRG011
MIFTS: 41

Progressive Myoclonus Epilepsy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy

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Aliases & Descriptions for Progressive Myoclonus Epilepsy:

Name: Progressive Myoclonus Epilepsy 11 13
Familial Progressive Myoclonic Epilepsy 46 66
Progressive Myoclonic Epilepsy 11 46
 
Myoclonic Epilepsies, Progressive 66
Unverricht-Lundborg Syndrome 66
Pme 11

Classifications:



External Ids:

Disease Ontology11 DOID:891
MeSH37 D020191
NCIt43 C7636

Summaries for Progressive Myoclonus Epilepsy

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NIH Rare Diseases:46 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 prickle1-related progressive myoclonus epilepsy with ataxia and progressive myoclonus epilepsy, lafora type, and has symptoms including myoclonus, seizures and ataxia. An important gene associated with Progressive Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). Affiliated tissues include brain and cortex, and related mouse phenotypes are muscle and nervous system.

Wikipedia:69 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 all 46)
idRelated DiseaseScoreTop Affiliating Genes
1prickle1-related progressive myoclonus epilepsy with ataxia12.5
2progressive myoclonus epilepsy, lafora type12.5
3unverricht-lundborg syndrome11.7
4epilepsy, progressive myoclonic 2b11.4
5gosr2-related progressive myoclonus ataxia11.3
6epilepsy, progressive myoclonic 511.2
7epilepsy, progressive myoclonic 3, with or without intracellular inclusions11.2
8epilepsy, progressive myoclonic 611.2
9epilepsy, progressive myoclonic 1a11.2
10spinal muscular atrophy with progressive myoclonic epilepsy11.2
11epilepsy, progressive myoclonic 4, with or without renal failure11.1
12epilepsy, progressive myoclonic 711.1
13epileptic encephalopathy, early infantile, 1611.1
14epilepsy, progressive myoclonic, 911.1
15epilepsy, progressive myoclonic, 811.1
16epm2a-related lafora disease11.1
17nhlrc1-related lafora disease11.1
18epilepsy11.0
19myoclonus epilepsy11.0
20myoclonus11.0
21ataxia10.3
22neuronitis10.3
23pulmonary fibrosis, familial10.2EPM2A, NHLRC1
24epilepsy, progressive myoclonic 1010.0
25neuropathy10.0
26encephalopathy10.0
27amyloidosis cutis dyschromia10.0EPM2A, NHLRC1
28candidal paronychia9.9CLN6, KCTD7
29friedreich ataxia9.8
30fragile x syndrome9.8
31neuronal ceroid-lipofuscinoses9.8
32glycogen storage disease9.8
33hepatitis9.8
34congenital generalized lipodystrophy9.8
35dementia9.8
36down syndrome9.8
37status epilepticus9.8
38myopathy9.8
39lipodystrophy9.8
40myotonic dystrophy9.8
41cerebral ventricle cancer9.4CSTB, EPM2A, NHLRC1, PRICKLE1, SCARB2
42myofibrillar lysis9.1CSTB, EPM2A, EPM2AIP1, NHLRC1, PRICKLE1, SCARB2
43urethral stricture8.8CSTB, EPM2A, KCTD7, NHLRC1, PRICKLE1, SCARB2
44treacher collins syndrome 38.7CSTB, EPM2A, GBE1, NHLRC1, PARK2
45neurological consequences of cytomegalovirus infection8.5CSTB, EPM2A, GOSR2, KCTD7, NHLRC1, PRICKLE1
46dermatophytosis5.9CLN6, CSTB, EPM2A, EPM2AIP1, GBE1, GOSR2

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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UMLS symptoms related to Progressive Myoclonus Epilepsy:


myoclonus, seizures, ataxia, hyperexplexia, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood

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 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CysteaminePhase 2, Phase 32660-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
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
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
2Dopamine agonistsPhase 2611
3
RopinirolePhase 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 (TN)
Ropinirol
Ropinirol [INN-Spanish]
Ropinirole
Ropinirole (INN)
Ropinirole HCl
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
4
DopaminePhase 2367851-61-6, 62-31-7681
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 [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
5insulin4401
6
protease inhibitors5157
Synonyms:
 
protease inhibitors
7serineNutraceutical883

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
8Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
9Mitochondrial 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:

34
Brain, Cortex

Animal Models for Progressive Myoclonus Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1CSTB, EPM2A, EPM2AIP1, GBE1, NHLRC1, PARK2
2MP:00036317.0CLN6, CSTB, EPM2A, GBE1, NHLRC1, PARK2
3MP:00053866.1CLN6, CSTB, EPM2A, EPM2AIP1, GBE1, GOSR2

Publications for Progressive Myoclonus Epilepsy

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Articles related to Progressive Myoclonus Epilepsy:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
The history of progressive myoclonus epilepsies. (27621064)
2016
2
GOSR2: a progressive myoclonus epilepsy gene. (27618868)
2016
3
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. (26552558)
2015
4
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. (25327891)
2014
5
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (23449775)
2013
6
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. (23601850)
2013
7
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. (23325613)
2013
8
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. (22703635)
2013
9
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. (24063889)
2013
10
Progressive myoclonus epilepsy. (23622396)
2013
11
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
12
Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers? (22456482)
2012
13
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
14
Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies. (21482188)
2011
15
Cystatin C rescues degenerating neurons in a cystatin B-knockout mouse model of progressive myoclonus epilepsy. (20889561)
2010
16
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
17
The autosomal recessively inherited progressive myoclonus epilepsies and their genes. (19469843)
2009
18
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. (19847901)
2009
19
Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome. (19597094)
2009
20
Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. (19420257)
2009
21
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. (18266750)
2008
22
Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451)
2007
23
Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy. (17054687)
2006
24
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
25
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. (14526183)
2003
26
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
27
Advances in the genetics of progressive myoclonus epilepsy. (11579433)
2001
28
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (11175283)
2000
29
Abnormal reactivity of the approximately 20-Hz motor cortex rhythm in Unverricht Lundborg type progressive myoclonus epilepsy. (11112402)
2000
30
Effects of vagus nerve stimulation on progressive myoclonus epilepsy of Unverricht-Lundborg type. (10961635)
2000
31
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. (9989632)
1999
32
Zonisamide for progressive myoclonus epilepsy: long-term observations in seven patients. (9477142)
1998
33
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
34
Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. (8909441)
1996
35
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. (7633421)
1995
36
Cortical reactivity in progressive myoclonus epilepsy. (7510633)
1994
37
Buspirone in progressive myoclonus epilepsy. (7679141)
1993
38
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. (8104628)
1993
39
Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. (2508989)
1989
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
Open trial with levodopa-carbidopa combination to patients with long-standing progressive myoclonus epilepsy. (6798816)
1981
43
L-tryptophan-carbidopa trial in patients with long-standing progressive myoclonus epilepsy. (6172951)
1981
44
Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy. (90138)
1979
45
Findings in routine laboratory examination in progressive myoclonus epilepsy. (804227)
1975
46
Progressive myoclonus epilepsy. Electroencephalographical findings. (4835646)
1974
47
Progressive myoclonus epilepsy. A clinical and histopathological study. (4835645)
1974
48
Progressive myoclonus epilepsy without Lafora bodies. (5783287)
1969
49
PROGRESSIVE MYOCLONUS EPILEPSY AS AN INBORN ERROR OF METABOLISM COMPARABLE TO STORAGE DISEASE. (14092643)
1963
50
PROGRESSIVE MYOCLONUS EPILEPSY WITH LAFORA BODIES. CLINICAL-PATHOLOGICAL FEATURES. (14092647)
1963

Variations for Progressive Myoclonus Epilepsy

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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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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:00058297.5GBE1, GOSR2, KCTD7, NHLRC1, PARK2, PRICKLE1

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

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:000597810.2GBE1, NHLRC1
2positive regulation of protein ubiquitinationGO:00313989.9NHLRC1, PRICKLE1
3positive regulation of proteasomal ubiquitin-dependent protein catabolic processGO:00324369.9PARK2, PRICKLE1
4adult locomotory behaviorGO:00083449.7CSTB, PARK2
5intra-Golgi vesicle-mediated transportGO:00068919.6GOSR2, TRAPPC10
6COPII vesicle coatingGO:00482089.5GOSR2, TRAPPC10

Sources for Progressive Myoclonus Epilepsy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet