MCID: MYC026
MIFTS: 32

Myoclonus Epilepsy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myoclonus Epilepsy

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Aliases & Descriptions for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy 45
 
Epilepsies, Myoclonic 65


Classifications:



Summaries for Myoclonus Epilepsy

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MalaCards based summary: Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to epilepsy, progressive myoclonic 2b and myoclonus epilepsy partial seizure. An important gene associated with Myoclonus Epilepsy is PRICKLE1 (Prickle Homolog 1), and among its related pathways are Diseases of metabolism and Glycogen storage diseases. The drug clonazepam has been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and globus pallidus, and related mouse phenotypes are no phenotypic analysis and nervous system.

Related Diseases for Myoclonus Epilepsy

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Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, progressive myoclonic 2b30.1CSTB, EPM2A, NHLRC1
2myoclonus epilepsy partial seizure28.8ATN1, CSTB, EPM2A, EPM2AIP1, NHLRC1, PRICKLE1
3myoclonus11.3
4progressive myoclonus epilepsy11.2
5progressive myoclonus epilepsy, lafora type10.7
6prickle1-related progressive myoclonus epilepsy with ataxia10.7
7ataxia10.6
8neuronitis10.5
9merrf syndrome10.5
10unverricht-lundborg syndrome10.4
11epilepsy, progressive myoclonic 610.3
12epilepsy, progressive myoclonic 510.2
13epilepsy, progressive myoclonic 710.2
14dentatorubro-pallidoluysian atrophy10.2
15dementia10.2
16epilepsy syndrome10.2
17myopathy10.2
18neuropathy10.2
19peripheral neuropathy10.2
20mitochondrial disorders10.2
21encephalopathy10.2
22epilepsy, generalized, with febrile seizures plus, type 510.1
23cerebellar ataxia10.1
24epilepsy, progressive myoclonic 3, with or without intracellular inclusions10.1
25friedreich ataxia10.1
26pick disease10.1
27myoclonic epilepsy, infantile, familial10.1
28epilepsy, progressive myoclonic, 810.1
29dravet syndrome10.1
30lipoma10.1
31fragile x syndrome10.1
32neuronal ceroid-lipofuscinoses10.1
33glycogen storage disease10.1
34hepatitis10.1
35niemann-pick disease10.1
36childhood absence epilepsy10.1
37status epilepticus10.1
38multiple symmetric lipomatosis10.1
39down syndrome10.1
40multiple symmetrical lipomatosis10.1
41mucolipidosis10.1
42anxiety disorder10.1
43glomerulosclerosis10.1
44idiopathic generalized epilepsy10.1
45lactic acidosis10.1
46lipomatosis10.1
47spinocerebellar ataxia10.1
48myotonic dystrophy10.1
49epilepsy progressive myoclonic type 310.1
50epm2a-related lafora disease10.1

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Clonazepamapproved, illicitPhase 4251622-61-32802
Synonyms:
1,3-Dihydro-5-(o-chlorophenyl)-7-nitro-3H-1,4-benzodiazepin-2-one
1,3-Dihydro-7-nitro-5-(2-chlorophenyl)-2H-1,4.benzodiazepin-2-one
1,3-dihydro-7-Nitro-5-(2-chlorophenyl)-2H-1,4.benzodiazepin-2-one
106955-87-7
1622-61-3
5-(2-Chloro-phenyl)-7-nitro-1,3-dihydro-benzo[e][1,4]diazepin-2-one
5-(2-Chlorophenyl)-1,3-dihydro-7-nitro-2H-1,4-benzodiazepin-2-one
5-(2-Chlorophenyl)-7-nitro-1,3-dihydro-2H-1,4-benzodiazepin-2-one
5-(2-Chlorophenyl)-7-nitro-1H-benzo[e][1,4]diazepin-2(3H)-one
5-(2-Chlorophenyl)-7-nitro-3H-1,4-benzodiazepin-2(1H)-one
5-(2-chlorophenyl)-7-nitro-1,3-dihydro-1,4-benzodiazepin-2-one
5-(O-Chlorophenyl)-7-nitro-1,3-dihydro-2H-1,4-benzodiazepin-2-one
5-(o-Chlorophenyl)-1,3-dihydro-7-nitro-2H-1,4-benzodiazepin-2-one
5-(o-Chlorophenyl)-7-nitro-1H-1,4-benzodiazepin-2(3H)-one
5-(o-chlorophenyl)-7-nitro-1,3-dihydro-2H-1,4-benzodiazepin-2-one
5-24-04-00351 (Beilstein Handbook Reference)
7-Nitro-5-(2-chlorophenyl)-3H-1,4-benzodiazepin-2(1H)-one
AC-15733
AC1L1EI2
Alti-Clonazepam
Antelepsin
Antilepsin
BAS 00308658
BIDD:PXR0144
BRN 0759557
C1277_SIGMA
C15H10ClN3O3
CHEBI:3756
CHEMBL452
CID2802
CLONAZEPAM
Chlonazepam
Cloazepam
Clonazepam
Clonazepam (JP15/USP/INN)
Clonazepam [USAN:INN:BAN:JAN]
Clonazepamum
Clonazepamum [INN-Latin]
Clonex
Clonopin
D00280
D002998
DB01068
 
DEA No. 2737
DF2374250
DivK1c_000973
EINECS 216-596-2
HMS2093H22
HMS503C07
HSDB 3265
I14-1364
IDI1_000973
Iktorivil
Jsp003251
KBio1_000973
Kenoket
Klonopin
Klonopin (TN)
Klonopin Rapidly Disintegrating
LS-34156
LS-34260
Landsen
Lktorivil
Lonazep
Melzap
MolPort-001-729-088
NINDS_000973
NIOSH/DF2374250
NSC 179913
NSC179913
Oprea1_168772
Paxam
RO4023
Ravotril
Rivatril
Rivoril
Rivotril
Ro 4-8180
Ro 4023
Ro 5-4023
Ro 5-4023/B-7
Ro 54023
Ro-5-4023
Solfidin
UNII-5PE9FDE8GB
WLN: T67 GMV JN IHJ CNW KR BG
ZINC03813003
clonazepam
2
Valproic Acidapproved, investigationalPhase 430299-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-PROPYL-pentanoic acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
3
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
4
Zonisamideapproved, investigationalPhase 36368291-97-45734
Synonyms:
1,2-Benzisoxazole-3-methanesulfonamide
1,2-benzoxazol-3-ylmethanesulfonamide
1-(1,2-Benzoxazol-3-Yl)methanesulfonamide
1-(1,2-benzisoxazol-3-yl)methanesulfonamide
3-(Sulfamoylmethyl)-1,2-benzisoxazole
3-sulfamoylmethyl-1,2-benzisoxazole
68291-97-4
AC-1413
AC1L1L0Q
AC1Q55GQ
AD 810
AD-810
AD-810N
AKOS001312269
BIDD:GT0708
BIDD:PXR0183
BRD-K48300629-001-03-8
BRN 1077076
Benzo[D]isoxazol-3-yl-methanesulfonamide
Bio-0532
C022189
C07504
C8H8N2O3S
CHEBI:10127
CHEMBL750
CI 912
CI-912
CID5734
CPD000596519
D00538
DB00909
E-2090
Elan brand of zonisamide
Exceglan
 
Excegram
Excegran
Excegran (TN)
FT-0082702
HMS2089O07
HSDB 7293
I06-0495
LS-33637
MLS001195632
MLS001306491
MolPort-002-507-855
NCGC00159319-02
NCGC00159319-03
PD 110843
PD-110843
S1445_Selleck
SAM002548957
SMR000596519
SPR_2
STK711131
Tremode
Trerief
UNII-459384H98V
ZINC00004321
Zonegran
Zonegran, Zonisamide
Zonisamida
Zonisamida [Spanish]
Zonisamide
Zonisamide (JAN/USAN/INN)
Zonisamide (ZNS)
Zonisamide [USAN:BAN:INN:JAN]
Zonisamidum
Zonisamidum [Latin]
zonisamide
zonisamide monosodium
5PiracetamPhase 31347491-74-9
6EtiracetamPhase 3190
7
LacosamideapprovedPhase 279860352-01-8, 175481-36-4219078
Synonyms:
( )-(2R)-2-(acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-(Acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-acetamido-N-benzyl-3-methoxypropanamide
175481-36-4
AC1L560M
ADD 234037
ADD-234037
AKOS005146274
AZD7762
CHEBI:188739
CHEMBL58323
CID219078
D07299
 
Erlosamide
Erlosamide [INN]
Erlosamide, Vimpat, Lacosamide
Harkoseride
I01-7424
LS-185541
Lacosamide
Lacosamide (USAN/INN)
Lacosamide [USAN]
S1253_Selleck
SPM 927
SPM-927
SPM-929
Vimpat
ZINC00007673
8
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
9
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
10Dopamine AgonistsPhase 2476
11Insulin, Globin Zinc4069
12insulin4069

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1The Benefit of Prophylactic Anticonvulsant in Post Cardiac Arrest Syndrome With Induced Mild HypothermiaEnrolling by invitationNCT01083784Phase 4
2Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + AdultsCompletedNCT00150774Phase 3
3Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and AdultsCompletedNCT00368251Phase 3
4Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and AdultsCompletedNCT00357669Phase 3
5Open-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
6Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised EpilepsyTerminatedNCT00693017Phase 3
7Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeWithdrawnNCT02174094Phase 3
8Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With EpilepsyCompletedNCT01118949Phase 2
9Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With EpilepsyCompletedNCT01118962Phase 2
10Physical Exercise in Subjects With Juvenile Myoclonic EpilepsyRecruitingNCT01450423Phase 2
11Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg TypeEnrolling by invitationNCT00639119Phase 2
12A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
13Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic StimulationCompletedNCT00001663Phase 1
14Effect of Levetiracetam on Brain ExcitabilityCompletedNCT00006191
15Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
16Ketogenic Diet for Child Epilepsy and Seizure ControlCompletedNCT00004729
17Epilepsy Motion SensingCompletedNCT01850498
18Ketogenic Diet in Lafora DiseaseCompletedNCT00007124
19Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
20Tonicity Monitor For Epilepsy and Hypertonic DisordersNot yet recruitingNCT02110589

Search NIH Clinical Center for Myoclonus Epilepsy

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Myoclonus Epilepsy

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Anatomical Context for Myoclonus Epilepsy

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MalaCards organs/tissues related to Myoclonus Epilepsy:

33
Brain, Cortex, Globus pallidus, Skeletal muscle

Animal Models for Myoclonus Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Myoclonus Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6ATN1, CSTB, NHLRC1, PRICKLE1
2MP:00036317.3ATN1, CSTB, EPM2A, NHLRC1, PRICKLE1, SCARB2
3MP:00053867.0ATN1, CSTB, EPM2A, NHLRC1, PRICKLE1, SCARB2

Publications for Myoclonus Epilepsy

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Articles related to Myoclonus Epilepsy:

(show top 50)    (show all 308)
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
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
6
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
7
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
8
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (18976727)
2008
9
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. (17452581)
2007
10
Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. (16901431)
2006
11
Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy. (16379547)
2005
12
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
13
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
14
Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). (12934064)
2003
15
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. (12484571)
2002
16
Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n. (11697735)
2001
17
Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy. (11198301)
2001
18
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (11175283)
2000
19
Abnormal reactivity of the approximately 20-Hz motor cortex rhythm in Unverricht Lundborg type progressive myoclonus epilepsy. (11112402)
2000
20
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. (9932960)
1999
21
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. (9989632)
1999
22
The molecular genetic bases of the progressive myoclonus epilepsies. (10514828)
1999
23
Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. (9533783)
1998
24
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
25
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
26
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
27
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
28
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
29
Cortical hyperexcitability in progressive myoclonus epilepsy: a study with transcranial magnetic stimulation. (8423883)
1993
30
Buspirone in progressive myoclonus epilepsy. (7679141)
1993
31
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder. (8454287)
1993
32
Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. (1957976)
1991
33
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (2118240)
1990
34
Autonomic nervous system function in Baltic myoclonus epilepsy. (2116965)
1990
35
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. (2508988)
1989
36
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. (3356526)
1988
37
Prolonged cortical somatosensory evoked potential latencies in progressive myoclonus epilepsy. (6431058)
1984
38
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
39
Clinical stages of progressive myoclonus epilepsy in adult patients. (6801911)
1982
40
Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with progressive myoclonus epilepsy. (6163302)
1980
41
Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy. (90138)
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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Search GEO for disease gene expression data for Myoclonus Epilepsy.

Pathways for genes affiliated with Myoclonus Epilepsy

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GO Terms for genes affiliated with Myoclonus Epilepsy

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

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00059789.9EPM2A, NHLRC1
2glucose metabolic processGO:00060069.5EPM2A, NHLRC1
3positive regulation of protein ubiquitinationGO:00313989.5NHLRC1, PRICKLE1
4autophagyGO:00069149.2EPM2A, NHLRC1

Sources for 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