JAE1
MCID: EPL133
MIFTS: 26

Epilepsy, Juvenile Absence 1 (JAE1) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Juvenile Absence 1

About this section
Sources:
12diseasecard, 24GeneTests, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Epilepsy, Juvenile Absence 1:

Name: Epilepsy, Juvenile Absence 1 52
Epilepsy, Juvenile Absence, Susceptibility to, 1 52 24 12
Eja1 24 70
Susceptibility to Juvenile Absence Epilepsy 1 70
Juvenile Absence Epilepsy 1 70
 
Juvenile Absence Epilepsy 54
Absence Epilepsy 68
Jae1 70
Jae 54

Characteristics:

Orphanet epidemiological data:

54
juvenile absence epilepsy:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent

HPO:

64
epilepsy, juvenile absence 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 607631
Orphanet54 ORPHA1941
MESH via Orphanet40 C535495
UMLS via Orphanet69 C2930918
ICD10 via Orphanet31 G40.3
MeSH39 D004832

Summaries for Epilepsy, Juvenile Absence 1

About this section
UniProtKB/Swiss-Prot:70 Juvenile absence epilepsy 1: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.

MalaCards based summary: Epilepsy, Juvenile Absence 1, also known as epilepsy, juvenile absence, susceptibility to, 1, is related to juvenile absence epilepsy and epilepsy, idiopathic generalized 11, and has symptoms including seizures, absence attacks and Array. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain Containing 1). Affiliated tissues include eye.

Description from OMIM:52 607631

Related Diseases for Epilepsy, Juvenile Absence 1

About this section

Diseases in the Juvenile Absence Epilepsy family:

epilepsy, juvenile absence 1 Early Onset Absence Epilepsy

Diseases related to Epilepsy, Juvenile Absence 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1juvenile absence epilepsy12.2
2epilepsy, idiopathic generalized 1111.7
3epilepsy, generalized, with febrile seizures plus, type 510.9
4epilepsy10.3
5succinic semialdehyde dehydrogenase deficiency9.7
6celiac disease9.7

Graphical network of diseases related to Epilepsy, Juvenile Absence 1:



Diseases related to epilepsy, juvenile absence 1

Symptoms & Phenotypes for Epilepsy, Juvenile Absence 1

About this section

Symptoms by clinical synopsis from OMIM:

607631

Clinical features from OMIM:

607631

Human phenotypes related to Epilepsy, Juvenile Absence 1:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized tonic-clonic seizures54 Very frequent (99-80%)
2 generalized seizures54 Very frequent (99-80%)
3 eeg with polyspike wave complexes54 Very frequent (99-80%)
4 abnormality of the mouth54 Frequent (79-30%)
5 abnormality of eye movement54 Frequent (79-30%)
6 absence seizures64 54 Occasional (29-5%) HP:0002121
7 febrile seizures54 Occasional (29-5%)
8 myoclonus54 Very rare (<4-1%)
9 generalized myoclonic seizures64 HP:0002123
10 generalized tonic-clonic seizures on awakening64 HP:0007193
11 eeg with spike-wave complexes (>3.5 hz)64 HP:0010849

UMLS symptoms related to Epilepsy, Juvenile Absence 1:


seizures, absence attacks

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

About this section

Drugs for Epilepsy, Juvenile Absence 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic Acidapproved, investigationalPhase 3, Phase 132799-66-13121
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
LacosamideapprovedPhase 3, Phase 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
3
Lamotrigineapproved, investigationalPhase 3, Phase 118584057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
4
EthosuximideapprovedPhase 3977-67-83291
Synonyms:
(+-)-2-Ethyl-2-methylsuccinimide
(±)-2-ethyl-2-methylsuccinimide
.alpha.-Ethyl-.alpha.-methylsuccinimide
.gamma.-Methyl-.gamma.-ethylsuccinimide
2-Ethyl-2-methylsuccinimide
2-Methyl-2-ethylsuccinimide
2-ethyl-2-methylsuccinimide
3-Ethyl-3-methyl-2, 5-pyrrolidinedion
3-Ethyl-3-methyl-2,5-pyrrolidinedione
3-Ethyl-3-methylpyrrolidine-2,5-dione
3-Ethyl-3-methylpyrroline-2,5-dione
3-Ethyl-3-methylsuccinimide
3-Methyl-3-ethylpyrrolidine-2,5-dione
3-Methyl-3-ethylsuccinimide
3-ethyl-3-methyl-2,5-pyrrolidinedione
5-21-09-00595 (Beilstein Handbook Reference)
77-67-8
AB00052288
AC1L1FLN
AC1Q2SOO
Aethosuccimidum
Aethosuximide
Aethosuximide [German]
Asamid
Atysmal
BPBio1_000033
BRD-A99633051-001-04-7
BRN 0117054
BSPBio_000029
C.I. 366
C07505
CHEBI:131811
CHEBI:4887
CHEMBL696
CI 366
CI-366
CID3291
CN-10,395
CN-10395
Capitus
Cl 366
D005013
D00539
DB00593
Desitin Brand of Ethosuximide
DivK1c_000218
E 7138
E0746
E7138_SIGMA
EINECS 201-048-7
EU-0100532
Emeside
Epileo Petit MAL
Ethosuccimid
Ethosuccimide
Ethosuccinimide
Ethosuxide
Ethosuximid
Ethosuximide
Ethosuximide (JP15/USP/INN)
Ethosuximide [USAN:INN:BAN:JAN]
Ethosuximidum
Ethosuximidum [INN-Latin]
Ethylmethylsuccimide
Ethymal
Etomal
Etosuccimide
Etosuccimide [DCIT]
Etosuximid
Etosuximida
Etosuximida Faes
Etosuximida [INN-Spanish]
Etosuximide
Faes Brand of Ethosuximide
Faes, Etosuximida
Fortbenton Brand of Ethosuximide
H 940
H-490
HMS1568B11
HMS1921L14
HMS2092D20
HMS500K20
HSDB 1119
IDI1_000218
 
Jenapharm Brand of Ethosuximide
KBio1_000218
KBio2_001865
KBio2_004433
KBio2_007001
KBio3_002008
KBioGR_001342
KBioSS_001865
Katwijk Brand of Ethosuximide
LAB Brand of Ethosuximide
LS-147585
Lopac0_000532
Mesentol
MolPort-003-666-417
N-Ethyl methylsuccinimide
NCGC00015418-02
NCGC00015418-06
NCGC00093923-01
NCGC00093923-02
NCGC00093923-03
NCGC00093923-04
NCIOpen2_000014
NINDS_000218
NSC 64013
NSC64013
PM 671
PM-671
Parke Davis Brand of Ethosuximide
Pemal
Pemalin
Pentinimid
Peptinimid
Petinimid
Petnidan
Pfizer Brand of Ethosuximide
Piknole.psi.n
Piknolepsin
Prestwick0_000165
Prestwick1_000165
Prestwick2_000165
Prestwick3_000165
Prestwick_611
Pyknole.psi.num
Pyknolepsinum
Ronton
SPBio_001465
SPBio_001950
SPECTRUM1502196
ST51037248
Simatin
Simatin(E)
Spectrum2_001483
Spectrum3_000944
Spectrum4_001051
Spectrum5_001073
Spectrum_001385
Succimal
Succimitin
Suksilep
Suxilep
Suximal
Suxin
Suxinutin
Thetamid
Thilopemal
UNII-5SEH9X1D1D
United Drug Brand of Ethosuximide
WLN: T5VMVTJ D2 D1
Warner Lambert Brand of Ethosuximide
Warner-Lambert Brand of Ethosuximide
Wernigerode Brand of Ethosuximide
Zaraondan
Zarodan
Zarondan
Zarondan-Saft
Zarontin
Zarontin (TN)
Zartalin
alpha-Ethyl-alpha-methylsuccinimide
alpha-Methyl-alpha-ethylsuccinimide
e
ethosuximide
gamma-Ethyl-gamma-methyl-succinimide
gamma-Methyl-gamma-ethyl-succinimide
gamma-ethyl-gamma-methyl-succinimide
γ-ethyl-γ-methyl-succinimide
5Excitatory Amino Acid AntagonistsPhase 3, Phase 11347
6GABA AgentsPhase 3, Phase 11684
7Tranquilizing AgentsPhase 3, Phase 14265
8Calcium, DietaryPhase 3, Phase 2, Phase 15713
9Pharmaceutical SolutionsPhase 3, Phase 28192
10calcium channel blockersPhase 3, Phase 2, Phase 11985
11AnticonvulsantsPhase 3, Phase 2, Phase 12695
12Psychotropic DrugsPhase 3, Phase 16430
13Diuretics, Potassium SparingPhase 3, Phase 11917
14Central Nervous System DepressantsPhase 3, Phase 113403
15Neurotransmitter AgentsPhase 3, Phase 118340
16Excitatory Amino AcidsPhase 3, Phase 11362
17Sodium Channel BlockersPhase 3, Phase 11593
18Antimanic AgentsPhase 3, Phase 1814
19
VerapamilapprovedPhase 213052-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
 
KBio3_002823
KBioGR_000233
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
20
Glycerolexperimental, approvedPhase 223856-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
21Vasodilator AgentsPhase 23543
22Anti-Arrhythmia AgentsPhase 23093
23Protective AgentsPhase 27443
24Convulsants7

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Clinical Study of Lamotrigine to Treat Newly Diagnosed Typical Absence Seizure in Children and AdolescentsCompletedNCT01431976Phase 3
2Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics StudyCompletedNCT00088452Phase 3
3Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic SeizuresEnrolling by invitationNCT02408549Phase 3
4Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeWithdrawnNCT02174094Phase 3
5Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With EpilepsyCompletedNCT01118949Phase 2
6Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With EpilepsyCompletedNCT01118962Phase 2
7Verapamil as Therapy for Children and Young Adults With Dravet SyndromeCompletedNCT01607073Phase 2
8Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)Active, not recruitingNCT01993186Phase 2
9LAMICTAL (Lamotrigine) For The Treatment Of Absence SeizuresCompletedNCT00144872Phase 1
10Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a PilotTerminatedNCT01007695Phase 1
11Tonicity Monitor For Epilepsy and Hypertonic DisordersUnknown statusNCT02110589
12Magnetoencephalography in Absence SeizuresCompletedNCT00884351
13Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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Genetic Tests for Epilepsy, Juvenile Absence 1

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Genetic tests related to Epilepsy, Juvenile Absence 1:

id Genetic test Affiliating Genes
1 Epilepsy, Juvenile Absence, Susceptibility to, 124 EFHC1

Anatomical Context for Epilepsy, Juvenile Absence 1

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MalaCards organs/tissues related to Epilepsy, Juvenile Absence 1:

36
Eye

Publications for Epilepsy, Juvenile Absence 1

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Variations for Epilepsy, Juvenile Absence 1

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Clinvar genetic disease variations for Epilepsy, Juvenile Absence 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EFHC1NM_ 018100.3(EFHC1): c.685T> C (p.Phe229Leu)SNVrisk factorrs137852776GRCh37Chr 6, 52317597: 52317597
2EFHC1NM_ 018100.3(EFHC1): c.520A> G (p.Ile174Val)SNVrisk factorrs137852779GRCh37Chr 6, 52303336: 52303336
3EFHC1NM_ 018100.3(EFHC1): c.776G> A (p.Cys259Tyr)SNVrisk factorrs137852780GRCh37Chr 6, 52318945: 52318945

Expression for genes affiliated with Epilepsy, Juvenile Absence 1

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Search GEO for disease gene expression data for Epilepsy, Juvenile Absence 1.

Pathways for genes affiliated with Epilepsy, Juvenile Absence 1

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GO Terms for genes affiliated with Epilepsy, Juvenile Absence 1

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Sources for Epilepsy, Juvenile Absence 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet