MCID: EPL121
MIFTS: 29

Epilepsy, Progressive Myoclonic 1a malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Epilepsy, Progressive Myoclonic 1a

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Aliases & Descriptions for Epilepsy, Progressive Myoclonic 1a:

Name: Epilepsy, Progressive Myoclonic 1a 50 12
Progressive Myoclonic Epilepsy Unverricht-Lundborg Type 68
Myoclonic Epilepsy of Unverricht and Lundborg 68
Epilepsy, Progressive Myoclonic 1 68
Progressive Myoclonic Epilepsy 1a 68
Progressive Myoclonic Epilepsy 1 68
 
Progressive Myoclonic Epilepsy 25
Baltic Myoclonic Epilepsy 68
Epm1a 68
Epm1 68
Uld 68

Characteristics:

HPO:

62
epilepsy, progressive myoclonic 1a:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 254800
MedGen35 C0751785
MeSH37 D020191

Summaries for Epilepsy, Progressive Myoclonic 1a

About this section
OMIM:50 Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of... (254800) more...

MalaCards based summary: Epilepsy, Progressive Myoclonic 1a, also known as progressive myoclonic epilepsy unverricht-lundborg type, is related to progressive myoclonus epilepsy and unverricht-lundborg syndrome, and has symptoms including myoclonus, seizures and ataxia. An important gene associated with Epilepsy, Progressive Myoclonic 1a is CSTB (Cystatin B).

UniProtKB/Swiss-Prot:68 Epilepsy, progressive myoclonic 1: An autosomal recessive disorder characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.

Related Diseases for Epilepsy, Progressive Myoclonic 1a

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Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Myoclonic, Familial Adult, 5 Epilepsy, Myoclonic, Familial Adult, 2
Epilepsy, Progressive Myoclonic 5 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b Myoclonic Epilepsy, Juvenile 1
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic, 9 Epilepsy, Progressive Myoclonic, 8
epilepsy, progressive myoclonic 1a Epilepsy Progressive Myoclonic Type 3
Cacnb4-Related Juvenile Myoclonic Epilepsy Clcn2-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Gabra1-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Scn1a-Related Severe Myoclonic Epilepsy in Infancy Benign Adult Familial Myoclonic Epilepsy
Epilepsy, Progressive Myoclonic 10

Diseases related to Epilepsy, Progressive Myoclonic 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy11.2
2unverricht-lundborg syndrome11.2
3epilepsy10.6
4myoclonus epilepsy10.6
5myoclonus10.6
6epilepsy, progressive myoclonic 59.9
7epilepsy, progressive myoclonic 4, with or without renal failure9.9
8epilepsy, progressive myoclonic 2b9.9
9epilepsy, progressive myoclonic 3, with or without intracellular inclusions9.9
10epilepsy, progressive myoclonic 79.9
11epilepsy, progressive myoclonic 69.9

Graphical network of diseases related to Epilepsy, Progressive Myoclonic 1a:



Diseases related to epilepsy, progressive myoclonic 1a

Symptoms for Epilepsy, Progressive Myoclonic 1a

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Symptoms by clinical synopsis from OMIM:

254800

Clinical features from OMIM:

254800

HPO human phenotypes related to Epilepsy, Progressive Myoclonic 1a:

(show all 6)
id Description Frequency HPO Source Accession
1 ataxia HP:0001251
2 dysarthria HP:0001260
3 mental deterioration HP:0001268
4 myoclonus HP:0001336
5 generalized tonic-clonic seizures HP:0002069
6 absence seizures HP:0002121

UMLS symptoms related to Epilepsy, Progressive Myoclonic 1a:


myoclonus, seizures

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic 1a

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Drugs for Epilepsy, Progressive Myoclonic 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
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
╬▓-MEA
╬▓-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
5
Acetylcysteine304616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
6
protease inhibitors5157
Synonyms:
 
protease inhibitors
7insulin4401
8serineNutraceutical883

Interventional clinical trials:

idNameStatusNCT IDPhase
1Soy Polysaccharide Fiber for the Treatment of Chronic Constipation in Children: a Randomized, Double-blind TrialCompletedNCT01267370Phase 4
2Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and AdultsCompletedNCT00357669Phase 3
3Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and AdultsCompletedNCT00368251Phase 3
4Open-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
5Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg TypeEnrolling by invitationNCT00639119Phase 2
6A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
7Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
8Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute InjuryCompletedNCT01612013
9Ketogenic Diet in Lafora DiseaseCompletedNCT00007124
10Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

Search NIH Clinical Center for Epilepsy, Progressive Myoclonic 1a

Genetic Tests for Epilepsy, Progressive Myoclonic 1a

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Genetic tests related to Epilepsy, Progressive Myoclonic 1a:

id Genetic test Affiliating Genes
1 Progressive Myoclonic Epilepsy25

Anatomical Context for Epilepsy, Progressive Myoclonic 1a

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Animal Models for Epilepsy, Progressive Myoclonic 1a or affiliated genes

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Publications for Epilepsy, Progressive Myoclonic 1a

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Variations for Epilepsy, Progressive Myoclonic 1a

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic 1a:

68
id Symbol AA change Variation ID SNP ID
1CSTBp.Gly4ArgVAR_002206rs74315443

Clinvar genetic disease variations for Epilepsy, Progressive Myoclonic 1a:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1CSTBNM_000100.3(CSTB): c.136C> T (p.Gln46Ter)single nucleotide variantPathogenicrs545986367GRCh38Chr 21, 43774690: 43774690
2CSTBNM_000100.3(CSTB): c.149G> A (p.Gly50Glu)single nucleotide variantPathogenicrs312262708GRCh38Chr 21, 43774677: 43774677
3CSTBNM_000100.3(CSTB): c.168+1_168+18deldeletionPathogenicrs312262707GRCh38Chr 21, 43774640: 43774657
4CSTBNM_000100.3(CSTB): c.168+2_168+21delinsAAindelPathogenicrs864309482GRCh38Chr 21, 43774637: 43774656
5CSTBNM_000100.3(CSTB): c.-210_-199(30_125)NT expansionPathogenicrs386833438GRCh37Chr 21, 45196349: 45196360
6CSTBNM_000100.3(CSTB): c.125C> A (p.Ser42Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833439GRCh37Chr 21, 45194582: 45194582
7CSTBNM_000100.3(CSTB): c.168G> A (p.Lys56=)single nucleotide variantLikely pathogenic, Pathogenicrs386833440GRCh37Chr 21, 45194539: 45194539
8CSTBNM_000100.3(CSTB): c.169-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs386833441GRCh37Chr 21, 45194213: 45194213
9CSTBNM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs)deletionLikely pathogenic, Pathogenicrs796943858GRCh37Chr 21, 45194161: 45194162
10CSTBNM_000100.3(CSTB): c.66G> A (p.Gln22=)single nucleotide variantLikely pathogenic, Pathogenicrs386833443GRCh37Chr 21, 45196085: 45196085
11CSTBNM_000100.3(CSTB): c.67-1G> Csingle nucleotide variantPathogenicrs147484110GRCh37Chr 21, 45194641: 45194641
12CSTBNM_000100.3(CSTB): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs74315442GRCh37Chr 21, 45194178: 45194178
13CSTBNM_000100.3(CSTB): c.10G> C (p.Gly4Arg)single nucleotide variantPathogenicrs74315443GRCh37Chr 21, 45196141: 45196141
14CSTBNM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3)NT expansionPathogenicrs193922905GRCh37Chr 21, 45196360: 45196371
15CSTBCSTB, 2-BP DEL, 2404TCdeletionPathogenic
16CSTBNM_000100.3(CSTB): c.212A> C (p.Gln71Pro)single nucleotide variantPathogenicrs121909346GRCh37Chr 21, 45194168: 45194168

Expression for genes affiliated with Epilepsy, Progressive Myoclonic 1a

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Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic 1a.

Pathways for genes affiliated with Epilepsy, Progressive Myoclonic 1a

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GO Terms for genes affiliated with Epilepsy, Progressive Myoclonic 1a

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Sources for Epilepsy, Progressive Myoclonic 1a

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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