EJA1
MCID: EPL133
MIFTS: 43

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 56
Epilepsy, Juvenile Absence, Susceptibility to, 1 56 29 13 6
Juvenile Absence Epilepsy 1 12 73 15
Eja1 56 12 73
Jae1 56 12 73
Epilepsy, Juvenile Absence, Susceptibility to, Type 1 39
Susceptibility to Juvenile Absence Epilepsy 1 73
Juvenile Absence Epilepsy 58
Absence Epilepsy 71
Jae 58

Characteristics:

Orphanet epidemiological data:

58
juvenile absence epilepsy
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset around puberty


HPO:

31
epilepsy, juvenile absence 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111324
OMIM 56 607631
OMIM Phenotypic Series 56 PS607631
MeSH 43 D004832
MESH via Orphanet 44 C535495
ICD10 via Orphanet 33 G40.3
UMLS via Orphanet 72 C2930918
Orphanet 58 ORPHA1941
UMLS 71 C0014553

Summaries for Epilepsy, Juvenile Absence 1

OMIM : 56 Juvenile absence epilepsy is a subtype of idiopathic generalized epilepsy (IGE; see 600669). Manifestations occur around puberty, in contrast to childhood absence epilepsy (CAE; 600131), which begins at age 6 to 7 years. Absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures are the main features of JAE. (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). (607631)

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, 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 myoclonus and abnormality of eye movement

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

UniProtKB/Swiss-Prot : 73 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.

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:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 12.9
2 epilepsy, idiopathic generalized 11.6
3 epilepsy, idiopathic generalized 11 11.3
4 epilepsy, idiopathic generalized 10 11.3
5 epilepsy 10.5
6 scoliosis 10.4
7 low compliance bladder 10.4
8 childhood absence epilepsy 10.2
9 visual epilepsy 10.1
10 status epilepticus 10.1
11 early myoclonic encephalopathy 10.1
12 seizure disorder 10.1
13 epilepsy, myoclonic juvenile 10.0
14 focal epilepsy 10.0
15 myoclonus 10.0
16 celiac disease 1 9.8
17 amnestic disorder 9.8
18 transient global amnesia 9.8
19 lactose intolerance 9.7 LALBA CSN2
20 mammary paget's disease 9.4 LALBA CSN3
21 cow milk allergy 9.4 LALBA CSN3 CSN2
22 milk allergy 9.3 LALBA CSN3 CSN2
23 mastitis 9.3 LALBA CSN3 CSN2

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 58 Very rare (<4-1%)
2 abnormality of eye movement 58 Frequent (79-30%)
3 abnormality of the mouth 58 Frequent (79-30%)
4 generalized tonic-clonic seizures 58 Very frequent (99-80%)
5 generalized-onset seizure 58 Very frequent (99-80%)
6 absence seizure 58 Occasional (29-5%)
7 febrile seizures 58 Occasional (29-5%)
8 eeg with spike-wave complexes (>3.5 hz) 31 HP:0010849
9 eeg with polyspike wave complexes 58 Very frequent (99-80%)
10 generalized tonic-clonic seizures on awakening 31 HP:0007193
11 generalized myoclonic seizure 31 HP:0002123
12 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Epilepsy, Juvenile Absence 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 BTN1A1 CSN2 CSN3 LALBA

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

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

(show all 24)
# 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 Anticonvulsants Phase 3
5 Neurotransmitter Agents Phase 3
6 Hormones Phase 3
7 Sodium Channel Blockers Phase 3
8 Psychotropic Drugs Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Calcium, Dietary Phase 3
11 calcium channel blockers Phase 3
12 Antipsychotic Agents Phase 3
13
Calcium Nutraceutical Phase 3 7440-70-2 271
14
Levetiracetam Approved Phase 2 102767-28-2 441341
15
Topiramate Approved Phase 2 97240-79-4 5284627
16 Hypoglycemic Agents Phase 2
17 Pharmaceutical Solutions Phase 2
18 Epidiolex Phase 2
19
Dopamine Approved 51-61-6, 62-31-7 681
20
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
21 Dopamine Agents
22 Gastrointestinal Agents
23 Dopamine agonists
24 Emetics

Interventional clinical trials:

(show all 19)
# 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 Prospective, Case-control Evaluation of Ketogenic Dietary Therapy for New-onset Childhood Absence Epilepsy Not yet recruiting NCT04274179 Phase 3 Absence epilepsy medications
3 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
4 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
5 A Phase 2a, Safety, Tolerability, Pharmacokinetics, and Quantitative EEG Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Completed NCT03406702 Phase 2 CX-8998
6 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
7 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
8 Evaluation of Lamotrigine in Subjects With Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
9 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
10 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
11 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
12 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
13 Magnetoencephalography in Absence Seizures Completed NCT00884351
14 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
15 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
16 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543
17 Longitudinal Early Epilepsy Study Recruiting NCT02954107
18 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
19 Detecting Absence Seizures Using Eye Tracking Not yet recruiting NCT04439656

Search NIH Clinical Center for Epilepsy, Juvenile Absence 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Genetic Tests for Epilepsy, Juvenile Absence 1

Genetic tests related to Epilepsy, Juvenile Absence 1:

# Genetic test Affiliating Genes
1 Epilepsy, Juvenile Absence, Susceptibility to, 1 29 EFHC1

Anatomical Context for Epilepsy, Juvenile Absence 1

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

40
Eye, Brain, Testes, Temporal Lobe

Publications for Epilepsy, Juvenile Absence 1

Articles related to Epilepsy, Juvenile Absence 1:

(show top 50) (show all 171)
# Title Authors PMID Year
1
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. 6 56
17159113 2006
2
Genetic influences on myoclonic and absence seizures. 61 56
14663045 2003
3
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. 61 56
9259378 1997
4
Clinical and genetic aspects of juvenile absence epilepsy. 61 56
7964917 1994
5
Genome search for susceptibility loci of common idiopathic generalised epilepsies. 56
10888596 2000
6
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 56
2502382 1989
7
Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit. 61
32524043 2020
8
High-power, frontal-dominant ripples in absence status epilepticus during childhood. 61
32299003 2020
9
Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome. 61
32504278 2020
10
Social impairment and stigma in genetic generalized epilepsies. 61
31931462 2020
11
Single-subject manual independent component analysis and resting state fMRI connectivity outcomes in patients with juvenile absence epilepsy. 61
31734272 2020
12
Default mode network dysfunction in idiopathic generalised epilepsy. 61
31862479 2020
13
Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging. 61
32210904 2020
14
Praxis induction and its relationship with cognition in genetic generalized epilepsy. 61
31805510 2020
15
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019
16
Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy. 61
31679374 2019
17
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. 61
30530409 2018
18
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. 61
30062784 2018
19
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. 61
29898971 2018
20
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. 61
30254527 2018
21
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. 61
29807291 2018
22
Source analysis of epileptiform discharges in absence epilepsy using Magnetoencephalography (MEG). 61
29232569 2018
23
Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. 61
29465899 2018
24
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 61
29924869 2018
25
Long-term outcome in adolescent-onset generalized genetic epilepsies. 61
28464258 2017
26
Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy? 61
27763964 2017
27
Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. 61
28324682 2017
28
Lacosamide for refractory generalized tonic-clonic seizures of non-focal origin in clinical practice: A clinical and VEEG study. 61
28948142 2017
29
[Classification of idiopathic generalised epilepsies in patients over 16 years of age]. 61
28074997 2017
30
[Pathomorphosis of idiopathic generalized epilepsy. Juvenile forms]. 61
29213036 2017
31
Impaired consciousness in patients with absence seizures investigated by functional MRI, EEG, and behavioural measures: a cross-sectional study. 61
27839650 2016
32
Role for serotonin2A (5-HT2A) and 2C (5-HT2C) receptors in experimental absence seizures. 61
27085605 2016
33
Analysis of rare copy number variation in absence epilepsies. 61
27123475 2016
34
Epileptiform K-Complexes and Sleep Spindles: An Underreported Phenomenon in Genetic Generalized Epilepsy. 61
26587665 2016
35
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature. 61
25420625 2016
36
Seizure outcome in patients with juvenile absence epilepsy. 61
26531750 2016
37
Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. 61
26712538 2016
38
[Anticonvulsive Therapy after the First Unprovoked Seizure – Pros and Cons]. 61
26732716 2016
39
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. 61
27551668 2016
40
Celiac Disease and Juvenile Absence Epilepsy. 61
26626904 2015
41
Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy. 61
25542253 2015
42
Investigation of GRIN2A in common epilepsy phenotypes. 61
26220384 2015
43
Focal seizure symptoms in idiopathic generalized epilepsies. 61
26187225 2015
44
Treatment of pediatric epilepsy in Poland. 61
25682573 2015
45
Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf? 61
26316843 2015
46
Clinical genetic study in juvenile myoclonic epilepsy. 61
25108570 2014
47
Zonisamide for refractory juvenile absence epilepsy. 61
24907183 2014
48
Calcium channel antibodies in patients with absence epilepsy. 61
24147594 2014
49
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. 61
24684814 2014
50
Low-dose sodium valproate in the treatment of idiopathic generalized epilepsies. 61
24372179 2014

Variations for Epilepsy, Juvenile Absence 1

ClinVar genetic disease variations for Epilepsy, Juvenile Absence 1:

6 (show top 50) (show all 66) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EFHC1 NM_018100.4(EFHC1):c.520A>G (p.Ile174Val)SNV risk factor 2068 rs137852779 6:52303336-52303336 6:52438538-52438538
2 EFHC1 NM_018100.4(EFHC1):c.776G>A (p.Cys259Tyr)SNV risk factor 2069 rs137852780 6:52318945-52318945 6:52454147-52454147
3 EFHC1 NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)SNV Conflicting interpretations of pathogenicity 205398 rs374661645 6:52288831-52288831 6:52424033-52424033
4 EFHC1 NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)SNV Conflicting interpretations of pathogenicity 205378 rs769591944 6:52303363-52303363 6:52438565-52438565
5 EFHC1 NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)SNV Conflicting interpretations of pathogenicity 205403 rs371151471 6:52329890-52329890 6:52465092-52465092
6 EFHC1 NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)SNV Uncertain significance 205404 rs369468811 6:52343926-52343926 6:52479128-52479128
7 EFHC1 NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)SNV Uncertain significance 205417 rs574948354 6:52357108-52357108 6:52492310-52492310
8 EFHC1 NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln)SNV Uncertain significance 210911 rs77682973 6:52317559-52317559 6:52452761-52452761
9 EFHC1 NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly)SNV Uncertain significance 284178 rs756563341 6:52343836-52343836 6:52479038-52479038
10 EFHC1 NM_018100.4(EFHC1):c.564A>G (p.Gln188=)SNV Uncertain significance 286058 rs766444850 6:52303380-52303380 6:52438582-52438582
11 EFHC1 NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)SNV Uncertain significance 205393 rs142107827 6:52319080-52319080 6:52454282-52454282
12 EFHC1 NM_018100.4(EFHC1):c.266A>G (p.His89Arg)SNV Uncertain significance 205421 rs543160745 6:52288946-52288946 6:52424148-52424148
13 EFHC1 NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)SNV Uncertain significance 128963 rs200116252 6:52343941-52343941 6:52479143-52479143
14 EFHC1 NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu)SNV Uncertain significance 197833 rs201263733 6:52319085-52319085 6:52454287-52454287
15 EFHC1 NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)SNV Uncertain significance 205394 rs779993809 6:52288748-52288748 6:52423950-52423950
16 EFHC1 NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp)SNV Uncertain significance 465666 rs747171841 6:52357104-52357104 6:52492306-52492306
17 EFHC1 NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln)SNV Uncertain significance 534107 rs1554258778 6:52303195-52303195 6:52438397-52438397
18 EFHC1 NM_018100.4(EFHC1):c.1221dup (p.Asp408fs)duplication Uncertain significance 411571 rs754483740 6:52334207-52334208 6:52469409-52469410
19 EFHC1 NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu)SNV Uncertain significance 411570 rs759944784 6:52344531-52344531 6:52479733-52479733
20 EFHC1 NM_018100.4(EFHC1):c.682_692del (p.Asp228fs)deletion Uncertain significance 411574 rs775980459 6:52317590-52317600 6:52452792-52452802
21 EFHC1 NM_018100.4(EFHC1):c.125G>A (p.Arg42His)SNV Uncertain significance 411575 rs773598517 6:52288805-52288805 6:52424007-52424007
22 EFHC1 NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys)SNV Uncertain significance 411569 rs373196171 6:52343925-52343925 6:52479127-52479127
23 EFHC1 NM_018100.4(EFHC1):c.915A>G (p.Ala305=)SNV Uncertain significance 411572 rs1060503381 6:52319084-52319084 6:52454286-52454286
24 EFHC1 NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro)SNV Uncertain significance 411573 rs752701116 6:52355036-52355036 6:52490238-52490238
25 EFHC1 NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser)SNV Uncertain significance 465667 rs1554257650 6:52285248-52285248 6:52420450-52420450
26 EFHC1 NM_018100.4(EFHC1):c.1492+1G>ASNV Uncertain significance 465663 rs191404037 6:52344049-52344049 6:52479251-52479251
27 EFHC1 NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer)indel Uncertain significance 534105 rs1554261668 6:52344494-52344504 6:52479696-52479706
28 EFHC1 NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn)SNV Uncertain significance 534106 rs750083920 6:52288867-52288867 6:52424069-52424069
29 EFHC1 NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer)indel Uncertain significance 534109 rs1554259746 6:52317578-52317586 6:52452780-52452788
30 EFHC1 NM_018100.4(EFHC1):c.1641-6C>GSNV Uncertain significance 534104 rs1554262183 6:52354932-52354932 6:52490134-52490134
31 EFHC1 NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)SNV Uncertain significance 580362 rs928396576 6:52288845-52288845 6:52424047-52424047
32 EFHC1 NM_018100.4(EFHC1):c.556_557TG[1] (p.Cys186_Asp187delinsTer)short repeat Uncertain significance 580308 rs1562447137 6:52303372-52303373 6:52438574-52438575
33 EFHC1 NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys)SNV Uncertain significance 576175 rs1562453330 6:52319048-52319048 6:52454250-52454250
34 EFHC1 NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp)SNV Uncertain significance 578529 rs373042342 6:52343952-52343952 6:52479154-52479154
35 EFHC1 NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro)SNV Uncertain significance 580955 rs749376467 6:52355065-52355065 6:52490267-52490267
36 EFHC1 NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser)SNV Uncertain significance 579355 rs1562442253 6:52288921-52288921 6:52424123-52424123
37 EFHC1 NM_018100.4(EFHC1):c.526A>G (p.Ile176Val)SNV Uncertain significance 567847 rs369777400 6:52303342-52303342 6:52438544-52438544
38 EFHC1 NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser)SNV Uncertain significance 567935 rs201379297 6:52317549-52317549 6:52452751-52452751
39 EFHC1 NM_018100.4(EFHC1):c.749A>T (p.Asp250Val)SNV Uncertain significance 577571 rs1562453181 6:52318918-52318918 6:52454120-52454120
40 EFHC1 NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys)SNV Uncertain significance 570748 rs536323609 6:52318966-52318966 6:52454168-52454168
41 EFHC1 NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly)SNV Uncertain significance 572605 rs766675010 6:52344507-52344507 6:52479709-52479709
42 EFHC1 NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro)SNV Uncertain significance 571113 rs867304706 6:52344552-52344552 6:52479754-52479754
43 EFHC1 NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)SNV Uncertain significance 572744 rs201543041 6:52319049-52319049 6:52454251-52454251
44 EFHC1 NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr)SNV Uncertain significance 574025 rs1562458726 6:52334173-52334173 6:52469375-52469375
45 EFHC1 NM_018100.4(EFHC1):c.21T>G (p.His7Gln)SNV Uncertain significance 648818 6:52285229-52285229 6:52420431-52420431
46 EFHC1 NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe)SNV Uncertain significance 662783 6:52285267-52285267 6:52420469-52420469
47 EFHC1 NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg)SNV Uncertain significance 655656 6:52288825-52288825 6:52424027-52424027
48 EFHC1 NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly)SNV Uncertain significance 641875 6:52288879-52288879 6:52424081-52424081
49 EFHC1 NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro)SNV Uncertain significance 665527 6:52303106-52303106 6:52438308-52438308
50 EFHC1 NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys)SNV Uncertain significance 658244 6:52303121-52303121 6:52438323-52438323

Expression for Epilepsy, Juvenile Absence 1

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

Pathways for Epilepsy, Juvenile Absence 1

GO Terms for Epilepsy, Juvenile Absence 1

Cellular components related to Epilepsy, Juvenile Absence 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.92 LALBA CSN3 CSN2 BTN1A1

Biological processes related to Epilepsy, Juvenile Absence 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 8.62 CSN3 CSN2

Molecular functions related to Epilepsy, Juvenile Absence 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 LALBA EFHC1 CSN2

Sources for Epilepsy, Juvenile Absence 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....