EJA1
MCID: EPL133
MIFTS: 40

Epilepsy, Juvenile Absence 1 (EJA1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Juvenile Absence 1

MalaCards integrated aliases for Epilepsy, Juvenile Absence 1:

Name: Epilepsy, Juvenile Absence 1 57
Eja1 57 12 74
Jae1 57 12 74
Epilepsy, Juvenile Absence, Susceptibility to, 1 57 13
Juvenile Absence Epilepsy 1 12 74
Epilepsy, Juvenile Absence, Susceptibility to, Type 1 40
Susceptibility to Juvenile Absence Epilepsy 1 74
Juvenile Absence Epilepsy 59
Absence Epilepsy 72
Jae 59

Characteristics:

Orphanet epidemiological data:

59
juvenile absence epilepsy
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset around puberty


HPO:

32
epilepsy, juvenile absence 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111324
OMIM 57 607631
MeSH 44 D004832
MESH via Orphanet 45 C535495
ICD10 via Orphanet 34 G40.3
UMLS via Orphanet 73 C2930918
Orphanet 59 ORPHA1941
UMLS 72 C0014553

Summaries for Epilepsy, Juvenile Absence 1

UniProtKB/Swiss-Prot : 74 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 eja1, is related to juvenile absence epilepsy and epilepsy, idiopathic generalized 11, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain Containing 1). The drugs Lamotrigine and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are absence seizure and abnormality of eye movement

Disease Ontology : 12 A juvenile absence epilepsy that has material basis in heterozygous mutation in EFHC1 on 6p12.2.

More information from OMIM: 607631

Related Diseases for Epilepsy, Juvenile Absence 1

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:

(showing 19, show less)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 12.9
2 epilepsy, idiopathic generalized 11 12.1
3 epilepsy, idiopathic generalized 11.6
4 epilepsy, idiopathic generalized 10 11.3
5 epilepsy 10.5
6 scoliosis 10.3
7 low compliance bladder 10.3
8 rare surgical neurologic disease 10.3
9 childhood absence epilepsy 10.2
10 visual epilepsy 10.2
11 seizure disorder 10.2
12 status epilepticus 10.1
13 early myoclonic encephalopathy 10.1
14 epilepsy, myoclonic juvenile 10.0
15 focal epilepsy 10.0
16 myoclonus 10.0
17 celiac disease 1 9.9
18 amnestic disorder 9.9
19 transient global amnesia 9.9

Graphical network of the top 20 diseases related to Epilepsy, Juvenile Absence 1:



Diseases related to Epilepsy, Juvenile Absence 1

Symptoms & Phenotypes for Epilepsy, Juvenile Absence 1

Human phenotypes related to Epilepsy, Juvenile Absence 1:

59 32 (showing 11, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absence seizure 59 32 Occasional (29-5%) HP:0002121
2 abnormality of eye movement 59 Frequent (79-30%)
3 generalized myoclonic seizures 32 HP:0002123
4 myoclonus 59 Very rare (<4-1%)
5 generalized tonic-clonic seizures 59 Very frequent (99-80%)
6 generalized-onset seizure 59 Very frequent (99-80%)
7 eeg with polyspike wave complexes 59 Very frequent (99-80%)
8 abnormality of the mouth 59 Frequent (79-30%)
9 febrile seizures 59 Occasional (29-5%)
10 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849
11 generalized tonic-clonic seizures on awakening 32 HP:0007193

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
myoclonic seizures
absence seizures
generalized tonic-clonic seizures (gtcs)
gtcs on awakening
eeg shows 3-4-hz spike waves

Clinical features from OMIM:

607631

UMLS symptoms related to Epilepsy, Juvenile Absence 1:


seizures, absence attacks, absence seizures

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

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

(showing 34, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
3
Ethosuximide Approved Phase 3 77-67-8 3291
4 Neurotransmitter Agents Phase 3
5 Psychotropic Drugs Phase 3
6 Central Nervous System Depressants Phase 3
7 GABA Agents Phase 3
8 Sodium Channel Blockers Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Tranquilizing Agents Phase 3
11 Antimanic Agents Phase 3
12 Antipsychotic Agents Phase 3
13
Levetiracetam Approved, Investigational Phase 2 102767-28-2 441341
14
Topiramate Approved Phase 2 97240-79-4 5284627
15
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
16 Nootropic Agents Phase 2
17 Hypoglycemic Agents Phase 2
18 Anticonvulsants Phase 2
19 Epidiolex Phase 2
20 Pharmaceutical Solutions Phase 2
21 Hormones Phase 2
22 calcium channel blockers Phase 2
23 Calcium, Dietary Phase 2
24
Dopamine Approved 51-61-6, 62-31-7 681
25
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
26 Sympathomimetics
27 Cardiotonic Agents
28 Gastrointestinal Agents
29 Dopamine Agents
30 Peripheral Nervous System Agents
31 Dopamine agonists
32 Protective Agents
33 Autonomic Agents
34 Emetics

Interventional clinical trials:

(showing 17, show less)
# Name Status NCT ID Phase Drugs
1 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 ethosuximide;lamotrigine;valproic acid
2 A 30-month Safety and Efficacy Follow-up Study With Levetiracetam at Individualized Optimal Dose in Children (4-17 Years Old at Inclusion) Suffering From Typical Absences in Childhood Absence Epilepsy (CAE) or Juvenile Absence Epilepsy (JAE) Completed NCT00545012 Phase 2 Levetiracetam
3 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
4 A Multicenter, Open-Label, Flexible Dose Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Patients With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03355300 Phase 2 Cannabidiol Oral Solution
5 A Phase 2, Open-label, Dose-finding Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Patients With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
6 A Phase 2a, Safety, Tolerability, Pharmacokinetics, and Quantitative EEG Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Active, not recruiting NCT03406702 Phase 2 CX-8998
7 Evaluation of Lamotrigine in Subjects With Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
8 Hyperventilation During Routine EEG in Children: the Impact of Body Position - Sitting vs Supine- on the Yield of the Procedure in Provoking Absence Seizures Unknown status NCT02766595
9 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
10 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
11 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
12 Magnetoencephalography in Absence Seizures Completed NCT00884351
13 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
14 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
15 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543
16 Longitudinal Early Epilepsy Study Recruiting NCT02954107
17 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures: Near-infrared Spectroscopy (NIRS) Coupled to Electroencephalography (EEG) Active, not recruiting NCT02819427

Search NIH Clinical Center for Epilepsy, Juvenile Absence 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Clonazepam
Divalproex Sodium
Ethosuximide
Mephobarbital
methsuximide
phensuximide
Sodium Valproate
Trimethadione
Valproic Acid

Genetic Tests for Epilepsy, Juvenile Absence 1

Anatomical Context for Epilepsy, Juvenile Absence 1

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

41
Eye, Brain, Testes, Temporal Lobe

Publications for Epilepsy, Juvenile Absence 1

Articles related to Epilepsy, Juvenile Absence 1:

(showing 162, show less)
# Title Authors PMID Year
1
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. 8 71
17159113 2006
2
Genetic influences on myoclonic and absence seizures. 38 8
14663045 2003
3
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. 38 8
9259378 1997
4
Clinical and genetic aspects of juvenile absence epilepsy. 38 8
7964917 1994
5
Genome search for susceptibility loci of common idiopathic generalised epilepsies. 8
10888596 2000
6
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 8
2502382 1989
7
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 38
31435640 2019
8
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. 38
30530409 2018
9
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. 38
30062784 2018
10
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the American Epilepsy Society and the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 38
30254527 2018
11
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. 38
29898971 2018
12
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. 38
29807291 2018
13
Source analysis of epileptiform discharges in absence epilepsy using Magnetoencephalography (MEG). 38
29232569 2018
14
Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. 38
29465899 2018
15
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 38
29924869 2018
16
Long-term outcome in adolescent-onset generalized genetic epilepsies. 38
28464258 2017
17
Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy? 38
27763964 2017
18
Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. 38
28324682 2017
19
Lacosamide for refractory generalized tonic-clonic seizures of non-focal origin in clinical practice: A clinical and VEEG study. 38
28948142 2017
20
[Classification of idiopathic generalised epilepsies in patients over 16 years of age]. 38
28074997 2017
21
[Pathomorphosis of idiopathic generalized epilepsy. Juvenile forms]. 38
29213036 2017
22
Impaired consciousness in patients with absence seizures investigated by functional MRI, EEG, and behavioural measures: a cross-sectional study. 38
27839650 2016
23
Role for serotonin2A (5-HT2A) and 2C (5-HT2C) receptors in experimental absence seizures. 38
27085605 2016
24
Analysis of rare copy number variation in absence epilepsies. 38
27123475 2016
25
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature. 38
25420625 2016
26
Epileptiform K-Complexes and Sleep Spindles: An Underreported Phenomenon in Genetic Generalized Epilepsy. 38
26587665 2016
27
Seizure outcome in patients with juvenile absence epilepsy. 38
26531750 2016
28
Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. 38
26712538 2016
29
[Anticonvulsive Therapy after the First Unprovoked Seizure – Pros and Cons]. 38
26732716 2016
30
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. 38
27551668 2016
31
Celiac Disease and Juvenile Absence Epilepsy. 38
26626904 2015
32
Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy. 38
25542253 2015
33
Investigation of GRIN2A in common epilepsy phenotypes. 38
26220384 2015
34
Focal seizure symptoms in idiopathic generalized epilepsies. 38
26187225 2015
35
Treatment of pediatric epilepsy in Poland. 38
25682573 2015
36
Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf? 38
26316843 2015
37
Clinical genetic study in juvenile myoclonic epilepsy. 38
25108570 2014
38
Zonisamide for refractory juvenile absence epilepsy. 38
24907183 2014
39
Calcium channel antibodies in patients with absence epilepsy. 38
24147594 2014
40
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. 38
24684814 2014
41
Low-dose sodium valproate in the treatment of idiopathic generalized epilepsies. 38
24372179 2014
42
Altered thalamocortical functional connectivity in idiopathic generalized epilepsy. 38
24650142 2014
43
[Antiepileptic drugs and seizure aggravation]. 38
25591652 2014
44
Generalized spike and waves: effect of discharge duration on brain networks as revealed by BOLD fMRI. 38
23990340 2014
45
Seizures from valproate-carbapenem interaction. 38
23932807 2013
46
Absence status seen in an adult patient. 38
24250182 2013
47
Patterns of cortical hyperexcitability in adolescent/adult-onset generalized epilepsies. 38
23551088 2013
48
Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India. 38
23956556 2013
49
Idiopathic generalized epilepsies. 38
23622205 2013
50
A clinical study of syndromes of idiopathic (genetic) generalized epilepsy. 38
23149265 2013
51
[A paradoxical reaction on valproates in a female patient with juvenile absence epilepsy]. 38
23739458 2013
52
The prognosis of idiopathic generalized epilepsy. 38
23106474 2012
53
Prevalence and characteristics of visual aura in idiopathic generalized epilepsy. 38
23159381 2012
54
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies. 38
22206818 2012
55
The classification and differential diagnosis of absence seizures with short-term video-EEG monitoring during childhood. 38
22397035 2012
56
[Complex therapy of idiopathic forms of epilepsy with small doses of valproates and levetiracetam]. 38
22983238 2012
57
Aggravation of absence seizure related to levetiracetam. 38
21680209 2011
58
Antiepileptic drugs withdrawal in patients with idiopathic generalized epilepsy. 38
21493107 2011
59
Levetiracetam monotherapy--outcomes from an epilepsy clinic. 38
21531583 2011
60
The double generalization phenomenon in juvenile absence epilepsy. 38
21571594 2011
61
10-year outcome of childhood epilepsy in well-functioning children and adolescents. 38
21371918 2011
62
Long term prognosis of juvenile absence epilepsy. 38
21163225 2011
63
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures. 38
21320115 2011
64
A multicenter, randomized, placebo-controlled trial of levetiracetam in children and adolescents with newly diagnosed absence epilepsy. 38
21320119 2011
65
Do patients with absence epilepsy respond to ketogenic diets? 38
20647578 2011
66
Temporal intermittent δ activity: a marker of juvenile absence epilepsy? 38
21044851 2011
67
Idiopathic generalised epilepsy of late onset: a separate nosological entity? 38
20802210 2010
68
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. 38
19616977 2010
69
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. 38
20061122 2010
70
Long-term efficacy of valproate versus lamotrigine in treatment of idiopathic generalized epilepsies in children and adolescents. 38
20167512 2010
71
Latencies to first typical generalized spike-wave discharge in idiopathic generalized epilepsies during video-EEG monitoring. 38
20087210 2010
72
Clinical and electroencephalographic characteristics of a cohort of patients with epilepsy and absence seizures. 38
20069206 2009
73
Guidelines for imaging infants and children with recent-onset epilepsy. 38
19389145 2009
74
Levetiracetam as add-on therapy for idiopathic generalized epilepsy syndromes with onset during adolescence: analysis of two randomized, double-blind, placebo-controlled studies. 38
19327967 2009
75
EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state. 38
19243419 2009
76
The evaluation of interictal focal EEG findings in adult patients with absence seizures. 38
19213578 2009
77
[Photosensitivity and generalized idiopathic epilepsies of children]. 38
21495349 2009
78
Factors influencing clinical features of absence seizures. 38
18616552 2008
79
Levetiracetam in absence epilepsy. 38
18808424 2008
80
Relationship among eye condition sensitivities, photosensitivity and epileptic syndromes. 38
19024089 2008
81
Photosensitivity in epileptic syndromes of childhood and adolescence. 38
18539564 2008
82
Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. 38
18285535 2008
83
Treatment of pediatric epilepsy: European expert opinion, 2007. 38
18077226 2007
84
Neuropsychological deficits in childhood epilepsy syndromes. 38
17963043 2007
85
Idiopathic generalized epilepsy with absences: syndrome classification. 38
17666074 2007
86
Typical absence epilepsy presenting prior to age of 3 years: an uncommon form of idiopathic generalized epilepsy. 38
17500018 2007
87
Beneficial effects of antiepileptic medication on absence seizures and cognitive functioning in children. 38
17531542 2007
88
Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. 38
17215107 2007
89
A study of idiopathic generalised epilepsy in an Irish population. 38
17223580 2007
90
Juvenile absence epilepsy exacerbated by valproic acid. 38
17275666 2007
91
Eye closure sensitivity and epileptic syndromes: A retrospective study of 26 adult cases. 38
17081776 2007
92
Giant subcortical high-frequency SEPs in idiopathic generalized epilepsy: a protective mechanism against seizures? 38
17097917 2007
93
Outcome of children with juvenile absence epilepsy. 38
16970883 2006
94
Voxel-based morphometry in patients with idiopathic generalized epilepsies. 38
16702001 2006
95
Absence and myoclonic status epilepticus precipitated by antiepileptic drugs in idiopathic generalized epilepsy. 38
16513683 2006
96
Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. 38
16520331 2006
97
Idiopathic generalized epilepsies of adolescence. 38
17105478 2006
98
Treatment of pediatric epilepsy: expert opinion, 2005. 38
16615562 2005
99
Clinical experience with levetiracetam in idiopathic generalized epilepsy according to different syndrome subtypes. 38
16162433 2005
100
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. 38
15852375 2005
101
Writing epilepsy: a neurophysiological, neuropsychological and neuroimaging study. 38
15820363 2005
102
Photosensitivity in idiopathic generalized epilepsies. 38
16302877 2005
103
Ion channels and epilepsy. 38
15974971 2005
104
Idiopathic generalized epilepsies recognized by the International League Against Epilepsy. 38
16302875 2005
105
[A course of idiopathic generalized epilepsy in adult and elderly patients]. 38
15825224 2005
106
[Childhood and juvenile absence epilepsy. Treatment and prognosis]. 38
15565844 2004
107
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. 38
15582027 2004
108
Long-term prognosis for childhood and juvenile absence epilepsy. 38
15503104 2004
109
Worsening of seizures by oxcarbazepine in juvenile idiopathic generalized epilepsies. 38
15461683 2004
110
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. 38
15101828 2004
111
Syndromic classification of patients with typical absence seizures. 38
14513161 2003
112
Natural history of absence epilepsy in children. 38
12945939 2003
113
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 38
12612585 2003
114
[The use of depakene and depakene-chrono in idiopathic generalized epilepsy]. 38
14571673 2003
115
Coincidence of rolandic and absence features: rare, but not impossible. 38
12585725 2002
116
Idiopathic generalised epilepsies with 3 Hz and faster spike wave discharges: a population-based study with evaluation and long-term follow-up in 71 patients. 38
12446224 2002
117
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. 38
11920863 2002
118
Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies. 38
11857586 2002
119
[Juvenile absence epilepsy(JAE)]. 38
12483831 2002
120
Prognostic significance of failure of the initial antiepileptic drug in children with absence epilepsy. 38
11422332 2001
121
Ictal single photon emission computed tomography in absence seizures: apparent implication of different neuronal mechanisms. 38
11392518 2001
122
Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. 38
11261507 2001
123
Absence epilepsy with fast rhythmic discharges during sleep: an intermediary form of generalized epilepsy? 38
11442152 2001
124
[Use of lamotrigine in the treatment of absence epilepsy crises]. 38
11310280 2001
125
[Idiopathic absence epilepsy]. 38
11355107 2001
126
EEG frequency profiles of idiopathic generalised epilepsy syndromes. 38
11074183 2000
127
Primary Generalized Epilepsies. 38
11096777 2000
128
Focal cortical-subcortical calcifications (FCSCs) and epilepsy in the Indian subcontinent. 38
10840405 2000
129
[Ion channels and epilepsy]. 38
10904966 2000
130
Neuropsychological EEG activation in patients with epilepsy. 38
10648439 2000
131
[Relapse of seizure after withdrawal of antiepileptic drug treatment in childhood epilepsy: age-dependent factors]. 38
10655745 2000
132
Efficacy of lamotrigine in idiopathic generalized epilepsy syndromes: a video-EEG-controlled, open study. 38
10937148 1999
133
Coexistence of temporal lobe and idiopathic generalized epilepsies. 38
10449109 1999
134
Eye closure related spike and wave discharges: clinical and syndromic associations. 38
10578473 1999
135
Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity. 38
10205274 1999
136
[Problems surrounding absence seizures]. 38
10355259 1999
137
Idiopathic generalized epilepsies with versive or circling seizures. 38
10225351 1999
138
Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes. 38
9762955 1998
139
The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy. 38
9477143 1998
140
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. 38
9259383 1997
141
Idiopathic generalized epilepsies with typical absences. 38
9266457 1997
142
[Differential diagnosis in idiopathic generalized epilepsies with tonic-clonic seizures: assessment of the use of ambulatory EEG and video/EEG monitoring]. 38
9380252 1997
143
[Television epilepsy]. 38
9511208 1997
144
Modern management of epilepsy: Adolescents. 38
9068882 1996
145
[Prospective study of the differences between the syndromes of infantile absence epilepsy and syndromes of juvenile absence epilepsy]. 38
8755355 1996
146
Recurrence of absence seizures induced by a low dose of amitriptyline: a case report. 38
21284782 1996
147
Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5. 38
8739126 1996
148
Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20. 38
8678111 1996
149
Absence epilepsies. 38
7489694 1995
150
Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies. 38
7675232 1995
151
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1". 38
7654068 1995
152
Idiopathic generalized epilepsy of adolescence: are the syndromes clinically distinct? 38
7644043 1995
153
Benzodiazepine-GABAA receptor binding during absence seizures. 38
7555973 1995
154
Benzodiazepine-GABAA receptors in idiopathic generalized epilepsy measured with [11C]flumazenil and positron emission tomography. 38
7821267 1995
155
[Clinical electroencephalographic diagnosis of myoclonus in various types of epilepsy]. 38
7870256 1994
156
Opiate receptors in idiopathic generalised epilepsy measured with [11C]diprenorphine and positron emission tomography. 38
7813416 1994
157
[Generalized idiopathic epilepsy in older children and adolescents]. 38
7842110 1994
158
The absence epilepsies. 38
8500432 1993
159
Epidemiology of absence epilepsy. III. Clinical aspects. 38
1750340 1991
160
Differentiation of typical absence seizures in epileptic syndromes. A video EEG study of 224 seizures in 20 patients. 38
2505885 1989
161
[Epilepsies in puberty and adolescence. Follow-up and drug therapy]. 38
2459760 1988
162
Relation of photosensitivity to epileptic syndromes. 38
3806115 1986

Variations for Epilepsy, Juvenile Absence 1

ClinVar genetic disease variations for Epilepsy, Juvenile Absence 1:

6 (showing 107, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EFHC1 NM_018100.4(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 6:52303336-52303336 6:52438538-52438538
2 EFHC1 NM_018100.4(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 6:52318945-52318945 6:52454147-52454147
3 EFHC1 NM_018100.4(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 6:52317574-52317574 6:52452776-52452776
4 EFHC1 NM_018100.4(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 6:52317541-52317541 6:52452743-52452743
5 EFHC1 NM_018100.4(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs137852776 6:52317597-52317597 6:52452799-52452799
6 EFHC1 NM_018100.4(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 6:52288909-52288909 6:52424111-52424111
7 EFHC1 NM_018100.4(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 6:52355109-52355109 6:52490311-52490311
8 EFHC1 NM_018100.4(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 6:52357062-52357062 6:52492264-52492264
9 EFHC1 NM_018100.4(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 6:52288770-52288770 6:52423972-52423972
10 EFHC1 NM_018100.4(EFHC1): c.887G> A (p.Arg296His) single nucleotide variant Conflicting interpretations of pathogenicity rs115205076 6:52319056-52319056 6:52454258-52454258
11 EFHC1 NM_018100.4(EFHC1): c.64-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201860746 6:52288739-52288739 6:52423941-52423941
12 EFHC1 NM_018100.4(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 6:52354972-52354972 6:52490174-52490174
13 EFHC1 NM_018100.4(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 6:52303363-52303363 6:52438565-52438565
14 EFHC1 NM_018100.4(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 6:52317573-52317573 6:52452775-52452775
15 EFHC1 NM_018100.4(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 6:52344502-52344502 6:52479704-52479704
16 EFHC1 NM_018100.4(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 6:52329890-52329890 6:52465092-52465092
17 EFHC1 NM_018100.4(EFHC1): c.1370G> T (p.Arg457Leu) single nucleotide variant Uncertain significance rs369468811 6:52343926-52343926 6:52479128-52479128
18 EFHC1 NM_018100.4(EFHC1): c.1892A> G (p.Tyr631Cys) single nucleotide variant Uncertain significance rs574948354 6:52357108-52357108 6:52492310-52492310
19 EFHC1 NM_018100.4(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 6:52317559-52317559 6:52452761-52452761
20 EFHC1 NM_018100.4(EFHC1): c.1280A> G (p.Glu427Gly) single nucleotide variant Uncertain significance rs756563341 6:52343836-52343836 6:52479038-52479038
21 EFHC1 NM_018100.4(EFHC1): c.564A> G (p.Gln188=) single nucleotide variant Uncertain significance rs766444850 6:52303380-52303380 6:52438582-52438582
22 EFHC1 NM_018100.4(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 6:52318900-52318900 6:52454102-52454102
23 EFHC1 NM_018100.4(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 6:52318986-52318986 6:52454188-52454188
24 EFHC1 NM_018100.4(EFHC1): c.911A> G (p.Asn304Ser) single nucleotide variant Uncertain significance rs142107827 6:52319080-52319080 6:52454282-52454282
25 EFHC1 NM_018100.4(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 6:52329833-52329833 6:52465035-52465035
26 EFHC1 NM_018100.4(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 6:52319085-52319085 6:52454287-52454287
27 EFHC1 NM_018100.4(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 6:52343862-52343862 6:52479064-52479064
28 EFHC1 NM_018100.4(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 6:52288748-52288748 6:52423950-52423950
29 EFHC1 NM_018100.4(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 6:52288777-52288777 6:52423979-52423979
30 EFHC1 NM_018100.4(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 6:52288831-52288831 6:52424033-52424033
31 EFHC1 NM_018100.4(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 6:52288946-52288946 6:52424148-52424148
32 EFHC1 NM_018100.4(EFHC1): c.344A> G (p.Tyr115Cys) single nucleotide variant Uncertain significance rs371610025 6:52303160-52303160 6:52438362-52438362
33 EFHC1 NM_018100.4(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 6:52343941-52343941 6:52479143-52479143
34 EFHC1 NM_018100.4(EFHC1): c.1147C> T (p.Pro383Ser) single nucleotide variant Uncertain significance rs546262142 6:52334140-52334140 6:52469342-52469342
35 EFHC1 NM_018100.4(EFHC1): c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) indel Uncertain significance rs1554261668 6:52344494-52344504 6:52479696-52479706
36 EFHC1 NM_018100.4(EFHC1): c.187G> A (p.Asp63Asn) single nucleotide variant Uncertain significance rs750083920 6:52288867-52288867 6:52424069-52424069
37 EFHC1 NM_018100.4(EFHC1): c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) indel Uncertain significance rs1554259746 6:52317578-52317586 6:52452780-52452788
38 EFHC1 NM_018100.4(EFHC1): c.1641-6C> G single nucleotide variant Uncertain significance rs1554262183 6:52354932-52354932 6:52490134-52490134
39 EFHC1 NM_018100.4(EFHC1): c.1665C> T (p.Gly555=) single nucleotide variant Uncertain significance rs369201702 6:52354962-52354962 6:52490164-52490164
40 EFHC1 NM_018100.4(EFHC1): c.544C> T (p.Arg182Cys) single nucleotide variant Uncertain significance rs200191497 6:52303360-52303360 6:52438562-52438562
41 EFHC1 NM_018100.4(EFHC1): c.1221dup (p.Asp408fs) duplication Uncertain significance rs754483740 6:52334214-52334214 6:52469416-52469416
42 EFHC1 NM_018100.4(EFHC1): c.1586C> A (p.Ala529Glu) single nucleotide variant Uncertain significance rs759944784 6:52344531-52344531 6:52479733-52479733
43 EFHC1 NM_018100.4(EFHC1): c.682_692del (p.Asp228fs) deletion Uncertain significance rs775980459 6:52317594-52317604 6:52452796-52452806
44 EFHC1 NM_018100.4(EFHC1): c.125G> A (p.Arg42His) single nucleotide variant Uncertain significance rs773598517 6:52288805-52288805 6:52424007-52424007
45 EFHC1 NM_018100.4(EFHC1): c.1369C> T (p.Arg457Cys) single nucleotide variant Uncertain significance rs373196171 6:52343925-52343925 6:52479127-52479127
46 EFHC1 NM_018100.4(EFHC1): c.1841_1851+13del deletion Uncertain significance rs775583843 6:52355138-52355161 6:52490340-52490363
47 EFHC1 NM_018100.4(EFHC1): c.915A> G (p.Ala305=) single nucleotide variant Uncertain significance rs1060503381 6:52319084-52319084 6:52454286-52454286
48 EFHC1 NM_018100.4(EFHC1): c.1739G> C (p.Arg580Pro) single nucleotide variant Uncertain significance rs752701116 6:52355036-52355036 6:52490238-52490238
49 EFHC1 NM_018100.4(EFHC1): c.40G> A (p.Gly14Ser) single nucleotide variant Uncertain significance rs1554257650 6:52285248-52285248 6:52420450-52420450
50 EFHC1 NM_018100.4(EFHC1): c.1492+1G> A single nucleotide variant Uncertain significance rs191404037 6:52344049-52344049 6:52479251-52479251
51 EFHC1 NM_018100.4(EFHC1): c.1888A> G (p.Asn630Asp) single nucleotide variant Uncertain significance rs747171841 6:52357104-52357104 6:52492306-52492306
52 EFHC1 NM_018100.4(EFHC1): c.379G> C (p.Glu127Gln) single nucleotide variant Uncertain significance rs1554258778 6:52303195-52303195 6:52438397-52438397
53 EFHC1 NM_018100.4(EFHC1): c.484C> T (p.His162Tyr) single nucleotide variant Uncertain significance rs112800954 6:52303300-52303300 6:52438502-52438502
54 EFHC1 NM_018100.4(EFHC1): c.559G> A (p.Asp187Asn) single nucleotide variant Uncertain significance rs148615781 6:52303375-52303375 6:52438577-52438577
55 EFHC1 NM_018100.4(EFHC1): c.165C> G (p.Asn55Lys) single nucleotide variant Uncertain significance 6:52288845-52288845 6:52424047-52424047
56 EFHC1 NM_018100.4(EFHC1): c.556_557TG[1] (p.Cys186_Asp187delinsTer) short repeat Uncertain significance 6:52303374-52303375 6:52438576-52438577
57 EFHC1 NM_018100.4(EFHC1): c.879C> G (p.Asn293Lys) single nucleotide variant Uncertain significance 6:52319048-52319048 6:52454250-52454250
58 EFHC1 NM_018100.4(EFHC1): c.1396T> G (p.Tyr466Asp) single nucleotide variant Uncertain significance 6:52343952-52343952 6:52479154-52479154
59 EFHC1 NM_018100.4(EFHC1): c.1768G> C (p.Ala590Pro) single nucleotide variant Uncertain significance 6:52355065-52355065 6:52490267-52490267
60 EFHC1 NM_018100.4(EFHC1): c.241C> T (p.Pro81Ser) single nucleotide variant Uncertain significance 6:52288921-52288921 6:52424123-52424123
61 EFHC1 NM_018100.4(EFHC1): c.526A> G (p.Ile176Val) single nucleotide variant Uncertain significance 6:52303342-52303342 6:52438544-52438544
62 EFHC1 NM_018100.4(EFHC1): c.637A> T (p.Thr213Ser) single nucleotide variant Uncertain significance 6:52317549-52317549 6:52452751-52452751
63 EFHC1 NM_018100.4(EFHC1): c.749A> T (p.Asp250Val) single nucleotide variant Uncertain significance 6:52318918-52318918 6:52454120-52454120
64 EFHC1 NM_018100.4(EFHC1): c.797A> G (p.Tyr266Cys) single nucleotide variant Uncertain significance 6:52318966-52318966 6:52454168-52454168
65 EFHC1 NM_018100.4(EFHC1): c.1562C> G (p.Ala521Gly) single nucleotide variant Uncertain significance 6:52344507-52344507 6:52479709-52479709
66 EFHC1 NM_018100.4(EFHC1): c.1607G> C (p.Arg536Pro) single nucleotide variant Uncertain significance 6:52344552-52344552 6:52479754-52479754
67 EFHC1 NM_018100.4(EFHC1): c.880C> T (p.Arg294Cys) single nucleotide variant Uncertain significance 6:52319049-52319049 6:52454251-52454251
68 EFHC1 NM_018100.4(EFHC1): c.896A> G (p.Lys299Arg) single nucleotide variant Uncertain significance 6:52319065-52319065 6:52454267-52454267
69 EFHC1 NM_018100.4(EFHC1): c.1180G> A (p.Ala394Thr) single nucleotide variant Uncertain significance 6:52334173-52334173 6:52469375-52469375
70 EFHC1 NM_018100.4(EFHC1): c.21T> G (p.His7Gln) single nucleotide variant Uncertain significance 6:52285229-52285229 6:52420431-52420431
71 EFHC1 NM_018100.4(EFHC1): c.54G> T (p.Lys18Asn) single nucleotide variant Uncertain significance 6:52285262-52285262 6:52420464-52420464
72 EFHC1 NM_018100.4(EFHC1): c.59C> T (p.Ser20Phe) single nucleotide variant Uncertain significance 6:52285267-52285267 6:52420469-52420469
73 EFHC1 NM_018100.4(EFHC1): c.145G> A (p.Gly49Arg) single nucleotide variant Uncertain significance 6:52288825-52288825 6:52424027-52424027
74 EFHC1 NM_018100.4(EFHC1): c.199A> G (p.Ser67Gly) single nucleotide variant Uncertain significance 6:52288879-52288879 6:52424081-52424081
75 EFHC1 NM_018100.4(EFHC1): c.290T> C (p.Leu97Pro) single nucleotide variant Uncertain significance 6:52303106-52303106 6:52438308-52438308
76 EFHC1 NM_018100.4(EFHC1): c.305A> G (p.Tyr102Cys) single nucleotide variant Uncertain significance 6:52303121-52303121 6:52438323-52438323
77 EFHC1 NM_018100.4(EFHC1): c.598G> C (p.Glu200Gln) single nucleotide variant Uncertain significance 6:52317510-52317510 6:52452712-52452712
78 EFHC1 NM_018100.4(EFHC1): c.637A> G (p.Thr213Ala) single nucleotide variant Uncertain significance 6:52317549-52317549 6:52452751-52452751
79 EFHC1 NM_018100.4(EFHC1): c.646C> T (p.Arg216Ter) single nucleotide variant Uncertain significance 6:52317558-52317558 6:52452760-52452760
80 EFHC1 NM_018100.4(EFHC1): c.693A> C (p.Gln231His) single nucleotide variant Uncertain significance 6:52317605-52317605 6:52452807-52452807
81 EFHC1 NM_018100.4(EFHC1): c.710C> A (p.Thr237Asn) single nucleotide variant Uncertain significance 6:52317622-52317622 6:52452824-52452824
82 EFHC1 NM_018100.4(EFHC1): c.854G> A (p.Arg285Lys) single nucleotide variant Uncertain significance 6:52319023-52319023 6:52454225-52454225
83 EFHC1 NM_018100.4(EFHC1): c.1171del (p.Glu391fs) deletion Uncertain significance 6:52334164-52334164 6:52469366-52469366
84 EFHC1 NM_018100.4(EFHC1): c.1274T> G (p.Val425Gly) single nucleotide variant Uncertain significance 6:52334267-52334267 6:52469469-52469469
85 EFHC1 NM_018100.4(EFHC1): c.1337C> T (p.Thr446Ile) single nucleotide variant Uncertain significance 6:52343893-52343893 6:52479095-52479095
86 EFHC1 NM_018100.4(EFHC1): c.1548G> A (p.Met516Ile) single nucleotide variant Uncertain significance 6:52344493-52344493 6:52479695-52479695
87 EFHC1 NM_018100.4(EFHC1): c.1606C> G (p.Arg536Gly) single nucleotide variant Uncertain significance 6:52344551-52344551 6:52479753-52479753
88 EFHC1 NM_018100.4(EFHC1): c.1606C> T (p.Arg536Ter) single nucleotide variant Uncertain significance 6:52344551-52344551 6:52479753-52479753
89 EFHC1 NM_018100.4(EFHC1): c.1663G> A (p.Gly555Ser) single nucleotide variant Uncertain significance 6:52354960-52354960 6:52490162-52490162
90 EFHC1 NM_018100.4(EFHC1): c.1776A> G (p.Gly592=) single nucleotide variant Uncertain significance 6:52355073-52355073 6:52490275-52490275
91 EFHC1 NM_018100.4(EFHC1): c.1059G> A (p.Arg353=) single nucleotide variant Likely benign rs200024100 6:52329835-52329835 6:52465037-52465037
92 EFHC1 NM_018100.4(EFHC1): c.1293A> C (p.Pro431=) single nucleotide variant Likely benign rs1554261597 6:52343849-52343849 6:52479051-52479051
93 EFHC1 NM_018100.4(EFHC1): c.1279-9C> T single nucleotide variant Likely benign rs143254681 6:52343826-52343826 6:52479028-52479028
94 EFHC1 NM_018100.4(EFHC1): c.1047A> G (p.Pro349=) single nucleotide variant Likely benign rs1163603161 6:52329823-52329823 6:52465025-52465025
95 EFHC1 NM_018100.4(EFHC1): c.1815G> A (p.Ser605=) single nucleotide variant Likely benign rs1045298708 6:52355112-52355112 6:52490314-52490314
96 EFHC1 NM_018100.4(EFHC1): c.1866C> T (p.Cys622=) single nucleotide variant Likely benign rs1554262324 6:52357082-52357082 6:52492284-52492284
97 EFHC1 NM_018100.4(EFHC1): c.678A> T (p.Pro226=) single nucleotide variant Likely benign rs1060504898 6:52317590-52317590 6:52452792-52452792
98 EFHC1 NM_018100.4(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 6:52334148-52334148 6:52469350-52469350
99 EFHC1 NM_018100.4(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 6:52343899-52343899 6:52479101-52479101
100 EFHC1 NM_018100.4(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 6:52285233-52285233 6:52420435-52420435
101 EFHC1 NM_018100.4(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 6:52303291-52303291 6:52438493-52438493
102 EFHC1 NM_018100.4(EFHC1): c.1069G> A (p.Glu357Lys) single nucleotide variant Benign/Likely benign rs505760 6:52329845-52329845 6:52465047-52465047
103 EFHC1 NM_018100.4(EFHC1): c.1893C> T (p.Tyr631=) single nucleotide variant Benign rs35648306 6:52357109-52357109 6:52492311-52492311
104 EFHC1 NM_018100.4(EFHC1): c.210A> G (p.Pro70=) single nucleotide variant Benign rs145367062 6:52288890-52288890 6:52424092-52424092
105 EFHC1 NM_018100.4(EFHC1): c.1820A> G (p.Asn607Ser) single nucleotide variant Benign rs115475262 6:52355117-52355117 6:52490319-52490319
106 EFHC1 NM_018100.4(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 6:52319050-52319050 6:52454252-52454252
107 EFHC1 NM_018100.4(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 6:52334217-52334217 6:52469419-52469419

Expression for Epilepsy, Juvenile Absence 1

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