MCID: EPL133
MIFTS: 17

Epilepsy, Juvenile Absence 1 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Epilepsy, Juvenile Absence 1

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Aliases & Descriptions for Epilepsy, Juvenile Absence 1:

Name: Epilepsy, Juvenile Absence 1 49
Epilepsy, Juvenile Absence, Susceptibility to, 1 11 22
Eja1 22 67
 
Susceptibility to Juvenile Absence Epilepsy 1 67
Juvenile Absence Epilepsy 1 67
Jae1 67


Classifications:



External Ids:

OMIM49 607631
MeSH36 D004832

Summaries for Epilepsy, Juvenile Absence 1

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UniProtKB/Swiss-Prot:67 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, is also known as epilepsy, juvenile absence, susceptibility to, 1, and has symptoms including autosomal dominant inheritance, absence seizures and generalized myoclonic seizures. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain (C-Terminal) Containing 1).

Description from OMIM:49 607631

Related Diseases for Epilepsy, Juvenile Absence 1

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Diseases in the Juvenile Absence Epilepsy family:

epilepsy, juvenile absence 1 Early Onset Absence Epilepsy

Symptoms for Epilepsy, Juvenile Absence 1

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Symptoms by clinical synopsis from OMIM:

607631

Clinical features from OMIM:

607631

HPO human phenotypes related to Epilepsy, Juvenile Absence 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 absence seizures HP:0002121
3 generalized myoclonic seizures HP:0002123
4 generalized tonic-clonic seizures on awakening HP:0007193
5 eeg with spike-wave complexes (>3.5 hz) HP:0010849

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lamotrigineapproved, investigationalPhase 3, Phase 117484057-84-13878
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
2
EthosuximideapprovedPhase 3877-67-83291
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
3
Valproic Acidapproved, investigationalPhase 3, Phase 130299-66-13121
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
4Calcium, DietaryPhase 3, Phase 2, Phase 13529
5
VerapamilapprovedPhase 211252-53-92520
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
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
SID104171262
SID124881789
SID124881790
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 Hydrochloride
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 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
6
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
7
GlycerolexperimentalPhase 217656-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane

Interventional clinical trials:

(show all 12)
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 StudyActive, not recruitingNCT00088452Phase 3
3Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeWithdrawnNCT02174094Phase 3
4Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With EpilepsyCompletedNCT01118949Phase 2
5Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With EpilepsyCompletedNCT01118962Phase 2
6Verapamil as Therapy for Children and Young Adults With Dravet SyndromeCompletedNCT01607073Phase 2
7Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)RecruitingNCT01993186Phase 2
8LAMICTAL (Lamotrigine) For The Treatment Of Absence SeizuresCompletedNCT00144872Phase 1
9Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a PilotTerminatedNCT01007695Phase 1
10Magnetoencephalography in Absence SeizuresCompletedNCT00884351
11Search for Genes Influencing Childhood Absence Epilepsy (CAE) StudyRecruitingNCT00041951
12Tonicity Monitor For Epilepsy and Hypertonic DisordersNot yet recruitingNCT02110589

Search NIH Clinical Center for Epilepsy, Juvenile Absence 1

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, 122 EFHC1

Anatomical Context for Epilepsy, Juvenile Absence 1

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Animal Models for Epilepsy, Juvenile Absence 1 or affiliated genes

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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.520A> G (p.Ile174Val)single nucleotide variantrisk factorrs137852779GRCh37Chr 6, 52303336: 52303336
2EFHC1NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr)single nucleotide variantrisk 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
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