MCID: MYC026
MIFTS: 33

Myoclonus Epilepsy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myoclonus Epilepsy

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Aliases & Descriptions for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy 46
 
Epilepsies, Myoclonic 66

Classifications:



Summaries for Myoclonus Epilepsy

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MalaCards based summary: Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to prickle1-related progressive myoclonus epilepsy with ataxia and progressive myoclonus epilepsy, and has symptoms including myoclonus, seizures and epileptic aura. An important gene associated with Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). 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 cellular and muscle.

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 64)
idRelated DiseaseScoreTop Affiliating Genes
1prickle1-related progressive myoclonus epilepsy with ataxia12.4
2progressive myoclonus epilepsy12.4
3progressive myoclonus epilepsy, lafora type12.3
4myoclonus epilepsy partial seizure12.0
5unverricht-lundborg syndrome11.7
6epilepsy, progressive myoclonic 2b11.3
7gosr2-related progressive myoclonus ataxia11.2
8epilepsy, progressive myoclonic 511.1
9epilepsy, progressive myoclonic 3, with or without intracellular inclusions11.1
10epilepsy, progressive myoclonic 711.1
11epilepsy, progressive myoclonic 611.1
12myoclonic epilepsy associated with ragged-red fibers11.1
13epilepsy11.0
14myoclonus11.0
15epilepsy, generalized, with febrile seizures plus, type 511.0
16epilepsy, progressive myoclonic 4, with or without renal failure11.0
17myoclonic epilepsy, infantile, familial11.0
18epileptic encephalopathy, early infantile, 1611.0
19epilepsy, progressive myoclonic, 911.0
20epilepsy, progressive myoclonic, 811.0
21dravet syndrome11.0
22epm2a-related lafora disease11.0
23nhlrc1-related lafora disease11.0
24myoclonic epilepsy in non-progressive encephalopathies11.0
25myoclonic epilepsy of infancy11.0
26benign adult familial myoclonic epilepsy11.0
27dentatorubro-pallidoluysian atrophy10.5
28mitochondrial disorders10.5
29ataxia10.3
30neuronitis10.2
31pulmonary fibrosis, familial10.0EPM2A, NHLRC1
32epilepsy, progressive myoclonic 109.9
33dementia9.9
34idiopathic generalized epilepsy9.9
35myopathy9.9
36neuropathy9.9
37encephalopathy9.9
38cerebellar ataxia9.8
39friedreich ataxia9.8
40pick disease9.8
41lipoma9.8
42fragile x syndrome9.8
43neuronal ceroid-lipofuscinoses9.8
44glycogen storage disease9.8
45hepatitis9.8
46niemann-pick disease9.8
47congenital generalized lipodystrophy9.8
48glomerulosclerosis9.8
49down syndrome9.8
50status epilepticus9.8

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



Diseases related to myoclonus epilepsy

Symptoms for Myoclonus Epilepsy

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UMLS symptoms related to Myoclonus Epilepsy:


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

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
Valproic AcidPhase 431899-66-13121
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-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-propyl-pentanoic 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)
Deproic
Di-N-propylacetic acid
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
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
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
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
2
ClonazepamPhase 4311622-61-32802
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 (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
3PiracetamPhase 31687491-74-9
4
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
5
ZonisamidePhase 36768291-97-45734
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 (JAN/USAN/INN)
Zonisamide (ZNS)
Zonisamide [USAN:BAN:INN:JAN]
Zonisamidum
Zonisamidum [Latin]
zonisamide
zonisamide monosodium
6
AZD7762Phase 276860352-01-8, 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
7
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
8
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
9Dopamine agonistsPhase 2611
10insulin4401
11
protease inhibitors5157
Synonyms:
 
protease inhibitors
12serineNutraceutical883

Interventional clinical trials:

(show all 22)
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
20Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
21Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac ArrestRecruitingNCT02886039
22Tonicity Monitor For Epilepsy and Hypertonic DisordersNot yet recruitingNCT02110589

Search NIH Clinical Center for Myoclonus Epilepsy

Inferred drug relations via UMLS66/NDF-RT44:

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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.4CSTB, EPM2A, NHLRC1, PRDM8, PRICKLE1
2MP:00053698.1CSTB, EPM2A, EPM2AIP1, NHLRC1, PRICKLE1
3MP:00036317.3CSTB, EPM2A, NHLRC1, PRDM8, PRICKLE1, SCARB2
4MP:00053866.7CSTB, EPM2A, EPM2AIP1, NHLRC1, PRDM8, PRICKLE1

Publications for Myoclonus Epilepsy

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Articles related to Myoclonus Epilepsy:

(show top 50)    (show all 320)
idTitleAuthorsYear
1
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. (27368338)
2016
2
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. (26552558)
2015
3
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. (25327891)
2014
4
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (23449775)
2013
5
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. (23601850)
2013
6
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. (23325613)
2013
7
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. (22703635)
2013
8
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. (24063889)
2013
9
Progressive myoclonus epilepsy. (23622396)
2013
10
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. (22815132)
2012
11
The protective roles of phosphorylated heat shock protein 27 in human cells harboring myoclonus epilepsy with ragged-red fibers A8344G mtDNA mutation. (22742457)
2012
12
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. (21782476)
2011
13
Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies. (21482188)
2011
14
Cystatin C rescues degenerating neurons in a cystatin B-knockout mouse model of progressive myoclonus epilepsy. (20889561)
2010
15
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
16
The autosomal recessively inherited progressive myoclonus epilepsies and their genes. (19469843)
2009
17
Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. (16901431)
2006
18
Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy. (17054687)
2006
19
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
20
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. (14526183)
2003
21
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
22
Advances in the genetics of progressive myoclonus epilepsy. (11579433)
2001
23
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. (11175283)
2000
24
Abnormal reactivity of the approximately 20-Hz motor cortex rhythm in Unverricht Lundborg type progressive myoclonus epilepsy. (11112402)
2000
25
Effects of vagus nerve stimulation on progressive myoclonus epilepsy of Unverricht-Lundborg type. (10961635)
2000
26
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. (9989632)
1999
27
Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. (9533783)
1998
28
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions. (9484389)
1998
29
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
30
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy. (9070587)
1997
31
Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. (8909441)
1996
32
In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. (7739567)
1995
33
Cortical reactivity in progressive myoclonus epilepsy. (7510633)
1994
34
Buspirone in progressive myoclonus epilepsy. (7679141)
1993
35
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder. (8454287)
1993
36
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. (8104628)
1993
37
Word deafness syndrome with lateralized, progressive action myoclonus, epilepsy and cerebellar signs. Coexistence of multifocal and system, asymmetrical CNS degeneration. (2518575)
1989
38
A sporadic case of benign myoclonus epilepsy of adult onset: its clinical aspects and electroencephalographic, polygraphic study. (3097366)
1986
39
"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. (6137660)
1983
40
Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. (6808417)
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
Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy. (90138)
1979
44
Content and composition of urinary glycosaminoglycans in the patients with myoclonus epilepsy with and without Lafora bodies. (200053)
1977
45
Isolation and characterization of the glycopeptide from the urine of myoclonus epilepsy of Lafora-body type. (1212236)
1975
46
Findings in routine laboratory examination in progressive myoclonus epilepsy. (804227)
1975
47
Progressive myoclonus epilepsy. Electroencephalographical findings. (4835646)
1974
48
Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea. (4188951)
1970
49
Myoclonus epilepsy and subacute presenile dementia in heredo-ataxia. (5412625)
1970
50
PROGRESSIVE MYOCLONUS EPILEPSY AS AN INBORN ERROR OF METABOLISM COMPARABLE TO STORAGE DISEASE. (14092643)
1963

Variations for Myoclonus Epilepsy

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Copy number variations for Myoclonus Epilepsy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11347892107500000169500000Copy numberSCN1Amyoclonus epilepsy

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
1positive regulation of protein ubiquitinationGO:00313989.6NHLRC1, PRICKLE1

Sources for 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