EJA1
MCID: EPL133
MIFTS: 46

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
Epilepsy, Juvenile Absence, Susceptibility to, 1 57 29 13 6
Juvenile Absence Epilepsy 1 12 72 15
Eja1 57 12 72
Jae1 57 12 72
Epilepsy, Juvenile Absence, Susceptibility to, Type 1 39
Susceptibility to Juvenile Absence Epilepsy 1 72
Juvenile Absence Epilepsy 58
Absence Epilepsy 70
Jae 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 607631
OMIM Phenotypic Series 57 PS607631
MeSH 44 D004832
MESH via Orphanet 45 C535495
ICD10 via Orphanet 33 G40.3
UMLS via Orphanet 71 C2930918
Orphanet 58 ORPHA1941
UMLS 70 C0014553

Summaries for Epilepsy, Juvenile Absence 1

OMIM® : 57 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) (Updated 05-Apr-2021)

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 Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include eye and temporal lobe, and related phenotypes are abnormality of eye movement and myoclonus

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

UniProtKB/Swiss-Prot : 72 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

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 abnormality of eye movement 58 Frequent (79-30%)
2 myoclonus 58 Very rare (<4-1%)
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 myoclonic seizure 31 HP:0002123
11 generalized non-motor (absence) seizure 31 HP:0002121
12 bilateral tonic-clonic seizure on awakening 31 HP:0007193

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Epilepsy, Juvenile Absence 1:


seizures; absence attacks; absence seizures

MGI Mouse Phenotypes related to Epilepsy, Juvenile Absence 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.26 BTN1A1 CSN2 CSN3 LALBA
2 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 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethosuximide Approved Phase 3 77-67-8 3291
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
4
tannic acid Approved Phase 2, Phase 3 1401-55-4
5
Brivaracetam Approved, Investigational Phase 2, Phase 3 357336-20-0 9837243
6
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
7 Neurotransmitter Agents Phase 3
8 Psychotropic Drugs Phase 3
9 Sodium Channel Blockers Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Antipsychotic Agents Phase 3
12 calcium channel blockers Phase 3
13 Calcium, Dietary Phase 3
14 Hormones Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16
Levetiracetam Approved Phase 2 102767-28-2 441341
17
Topiramate Approved Phase 2 97240-79-4 5284627
18 Nootropic Agents Phase 2
19 Hypoglycemic Agents Phase 2
20 Pharmaceutical Solutions Phase 2
21 Anticonvulsants Phase 2
22 Epidiolex Phase 2

Interventional clinical trials:

(show all 14)
# 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 Recruiting NCT04274179 Phase 3 Absence epilepsy medications
3 A Randomized, Dose-Finding and Confirmatory, Double-Blind, Placebo-Controlled, Parallel-Group Multicenter Study With a 2 Stage Adaptive Design and Randomized Withdrawal to Evaluate the Efficacy, Safety, and Tolerability of Brivaracetam as Monotherapy in Patients 2 to 25 Years of Age With Childhood Absence Epilepsy or Juvenile Absence Epilepsy Not yet recruiting NCT04666610 Phase 2, Phase 3 Brivaracetam
4 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
5 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
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 Terminated 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 Terminated NCT03336242 Phase 2 Cannabidiol Oral Solution
8 Longitudinal Early Epilepsy Study Unknown status NCT02954107
9 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
10 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
11 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
12 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
13 Objective EEG Bed Side Assessment of Impaired Conscious Awareness in Epilepsy Not yet recruiting NCT04799795
14 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Suspended NCT03676543

Search NIH Clinical Center for Epilepsy, Juvenile Absence 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Temporal Lobe

Publications for Epilepsy, Juvenile Absence 1

Articles related to Epilepsy, Juvenile Absence 1:

(show top 50) (show all 181)
# Title Authors PMID Year
1
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. 57 6
17159113 2006
2
Genetic influences on myoclonic and absence seizures. 61 57
14663045 2003
3
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. 57 61
9259378 1997
4
Clinical and genetic aspects of juvenile absence epilepsy. 57 61
7964917 1994
5
Genome search for susceptibility loci of common idiopathic generalised epilepsies. 57
10888596 2000
6
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 57
2502382 1989
7
Social outcome and psychiatric comorbidity of generalized epilepsies - A case-control study. 61
33734434 2021
8
Alternatives to valproate in girls and women of childbearing potential with Idiopathic Generalized Epilepsies: state of the art and guidance for the clinician proposed by the Epilepsy and Gender Commission of the Italian League Against Epilepsy (LICE). 61
33418162 2021
9
Aberrant basal ganglia-thalamo-cortical network topology in juvenile absence epilepsy: A resting-state EEG-fMRI study. 61
33307464 2021
10
Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome. 61
32504278 2020
11
Computationally-Efficient Algorithm for Real-Time Absence Seizure Detection in Wearable Electroencephalography. 61
32808854 2020
12
Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy. 61
32745958 2020
13
Network characteristics of genetic generalized epilepsy: Are the syndromes distinct? 61
33045541 2020
14
Clinico-electrographic characteristics and classification of genetic generalized epilepsy in Oman. 61
32590287 2020
15
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. 61
33096746 2020
16
How to diagnose and classify idiopathic (genetic) generalized epilepsies. 61
32782228 2020
17
Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit. 61
32524043 2020
18
High-power, frontal-dominant ripples in absence status epilepticus during childhood. 61
32299003 2020
19
[Pediatric epilepsies]. 61
32877101 2020
20
Social impairment and stigma in genetic generalized epilepsies. 61
31931462 2020
21
Single-subject manual independent component analysis and resting state fMRI connectivity outcomes in patients with juvenile absence epilepsy. 61
31734272 2020
22
Default mode network dysfunction in idiopathic generalised epilepsy. 61
31862479 2020
23
Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging. 61
32210904 2020
24
Praxis induction and its relationship with cognition in genetic generalized epilepsy. 61
31805510 2020
25
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019
26
Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy. 61
31679374 2019
27
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. 61
30530409 2018
28
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. 61
30062784 2018
29
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
30
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
31
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. 61
29807291 2018
32
Source analysis of epileptiform discharges in absence epilepsy using Magnetoencephalography (MEG). 61
29232569 2018
33
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 61
29924869 2018
34
Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. 61
29465899 2018
35
Long-term outcome in adolescent-onset generalized genetic epilepsies. 61
28464258 2017
36
Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy? 61
27763964 2017
37
Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. 61
28324682 2017
38
Lacosamide for refractory generalized tonic-clonic seizures of non-focal origin in clinical practice: A clinical and VEEG study. 61
28948142 2017
39
[Pathomorphosis of idiopathic generalized epilepsy. Juvenile forms]. 61
29213036 2017
40
[Classification of idiopathic generalised epilepsies in patients over 16 years of age]. 61
28074997 2017
41
Impaired consciousness in patients with absence seizures investigated by functional MRI, EEG, and behavioural measures: a cross-sectional study. 61
27839650 2016
42
Role for serotonin2A (5-HT2A) and 2C (5-HT2C) receptors in experimental absence seizures. 61
27085605 2016
43
Analysis of rare copy number variation in absence epilepsies. 61
27123475 2016
44
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature. 61
25420625 2016
45
Epileptiform K-Complexes and Sleep Spindles: An Underreported Phenomenon in Genetic Generalized Epilepsy. 61
26587665 2016
46
Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. 61
26712538 2016
47
Seizure outcome in patients with juvenile absence epilepsy. 61
26531750 2016
48
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. 61
27551668 2016
49
[Anticonvulsive Therapy after the First Unprovoked Seizure – Pros and Cons]. 61
26732716 2016
50
Celiac Disease and Juvenile Absence Epilepsy. 61
26626904 2015

Variations for Epilepsy, Juvenile Absence 1

ClinVar genetic disease variations for Epilepsy, Juvenile Absence 1:

6 (show top 50) (show all 229)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFHC1 NM_018100.4(EFHC1):c.276del (p.Phe92fs) Deletion Pathogenic 1033464 GRCh37: 6:52288954-52288954
GRCh38: 6:52424156-52424156
2 EFHC1 NM_018100.4(EFHC1):c.520A>G (p.Ile174Val) SNV risk factor 2068 rs137852779 GRCh37: 6:52303336-52303336
GRCh38: 6:52438538-52438538
3 EFHC1 NM_018100.4(EFHC1):c.776G>A (p.Cys259Tyr) SNV risk factor 2069 rs137852780 GRCh37: 6:52318945-52318945
GRCh38: 6:52454147-52454147
4 EFHC1 NM_018100.4(EFHC1):c.915A>G (p.Ala305=) SNV Uncertain significance 411572 rs1060503381 GRCh37: 6:52319084-52319084
GRCh38: 6:52454286-52454286
5 EFHC1 NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln) SNV Uncertain significance 210911 rs77682973 GRCh37: 6:52317559-52317559
GRCh38: 6:52452761-52452761
6 EFHC1 NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) SNV Uncertain significance 411569 rs373196171 GRCh37: 6:52343925-52343925
GRCh38: 6:52479127-52479127
7 EFHC1 NM_018100.4(EFHC1):c.1492+1G>A SNV Uncertain significance 465663 rs191404037 GRCh37: 6:52344049-52344049
GRCh38: 6:52479251-52479251
8 EFHC1 NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser) SNV Uncertain significance 465667 rs1554257650 GRCh37: 6:52285248-52285248
GRCh38: 6:52420450-52420450
9 EFHC1 NM_018100.4(EFHC1):c.526A>G (p.Ile176Val) SNV Uncertain significance 567847 rs369777400 GRCh37: 6:52303342-52303342
GRCh38: 6:52438544-52438544
10 EFHC1 NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser) SNV Uncertain significance 567935 rs201379297 GRCh37: 6:52317549-52317549
GRCh38: 6:52452751-52452751
11 EFHC1 NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys) SNV Uncertain significance 570748 rs536323609 GRCh37: 6:52318966-52318966
GRCh38: 6:52454168-52454168
12 EFHC1 NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro) SNV Uncertain significance 571113 rs867304706 GRCh37: 6:52344552-52344552
GRCh38: 6:52479754-52479754
13 EFHC1 NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly) SNV Uncertain significance 572605 rs766675010 GRCh37: 6:52344507-52344507
GRCh38: 6:52479709-52479709
14 EFHC1 NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr) SNV Uncertain significance 574025 rs1562458726 GRCh37: 6:52334173-52334173
GRCh38: 6:52469375-52469375
15 EFHC1 NM_018100.4(EFHC1):c.749A>T (p.Asp250Val) SNV Uncertain significance 577571 rs1562453181 GRCh37: 6:52318918-52318918
GRCh38: 6:52454120-52454120
16 EFHC1 NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp) SNV Uncertain significance 578529 rs373042342 GRCh37: 6:52343952-52343952
GRCh38: 6:52479154-52479154
17 EFHC1 NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser) SNV Uncertain significance 579355 rs1562442253 GRCh37: 6:52288921-52288921
GRCh38: 6:52424123-52424123
18 EFHC1 NM_018100.4(EFHC1):c.556_557TG[1] (p.Cys186_Asp187delinsTer) Microsatellite Uncertain significance 580308 rs1562447137 GRCh37: 6:52303372-52303373
GRCh38: 6:52438574-52438575
19 EFHC1 NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys) SNV Uncertain significance 580362 rs928396576 GRCh37: 6:52288845-52288845
GRCh38: 6:52424047-52424047
20 EFHC1 NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) SNV Uncertain significance 580955 rs749376467 GRCh37: 6:52355065-52355065
GRCh38: 6:52490267-52490267
21 EFHC1 NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp) SNV Uncertain significance 465666 rs747171841 GRCh37: 6:52357104-52357104
GRCh38: 6:52492306-52492306
22 EFHC1 NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly) SNV Uncertain significance 641875 rs766220714 GRCh37: 6:52288879-52288879
GRCh38: 6:52424081-52424081
23 EFHC1 NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile) SNV Uncertain significance 641895 rs753032457 GRCh37: 6:52343893-52343893
GRCh38: 6:52479095-52479095
24 EFHC1 NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile) SNV Uncertain significance 644582 rs973650043 GRCh37: 6:52344493-52344493
GRCh38: 6:52479695-52479695
25 EFHC1 NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly) SNV Uncertain significance 284178 rs756563341 GRCh37: 6:52343836-52343836
GRCh38: 6:52479038-52479038
26 EFHC1 NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) SNV Uncertain significance 646256 rs767704811 GRCh37: 6:52317510-52317510
GRCh38: 6:52452712-52452712
27 EFHC1 NM_018100.4(EFHC1):c.1776A>G (p.Gly592=) SNV Uncertain significance 647359 rs1581854375 GRCh37: 6:52355073-52355073
GRCh38: 6:52490275-52490275
28 EFHC1 NM_018100.4(EFHC1):c.21T>G (p.His7Gln) SNV Uncertain significance 648818 rs775530837 GRCh37: 6:52285229-52285229
GRCh38: 6:52420431-52420431
29 EFHC1 NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser) SNV Uncertain significance 648955 rs1581854254 GRCh37: 6:52354960-52354960
GRCh38: 6:52490162-52490162
30 EFHC1 NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly) SNV Uncertain significance 654115 rs779990464 GRCh37: 6:52344551-52344551
GRCh38: 6:52479753-52479753
31 EFHC1 NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg) SNV Uncertain significance 655656 rs760025678 GRCh37: 6:52288825-52288825
GRCh38: 6:52424027-52424027
32 EFHC1 NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn) SNV Uncertain significance 656050 rs765821468 GRCh37: 6:52317622-52317622
GRCh38: 6:52452824-52452824
33 EFHC1 NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys) SNV Uncertain significance 658244 rs368992606 GRCh37: 6:52303121-52303121
GRCh38: 6:52438323-52438323
34 EFHC1 NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala) SNV Uncertain significance 659026 rs201379297 GRCh37: 6:52317549-52317549
GRCh38: 6:52452751-52452751
35 EFHC1 NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter) SNV Uncertain significance 659694 rs779990464 GRCh37: 6:52344551-52344551
GRCh38: 6:52479753-52479753
36 EFHC1 NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter) SNV Uncertain significance 660478 rs377165334 GRCh37: 6:52317558-52317558
GRCh38: 6:52452760-52452760
37 EFHC1 NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe) SNV Uncertain significance 662783 rs147882603 GRCh37: 6:52285267-52285267
GRCh38: 6:52420469-52420469
38 EFHC1 NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys) SNV Uncertain significance 664750 rs17851771 GRCh37: 6:52319023-52319023
GRCh38: 6:52454225-52454225
39 EFHC1 NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) SNV Uncertain significance 357480 rs148615781 GRCh37: 6:52303375-52303375
GRCh38: 6:52438577-52438577
40 EFHC1 NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro) SNV Uncertain significance 665527 rs1451023675 GRCh37: 6:52303106-52303106
GRCh38: 6:52438308-52438308
41 EFHC1 NM_018100.4(EFHC1):c.1171del (p.Glu391fs) Deletion Uncertain significance 666108 rs1218368055 GRCh37: 6:52334163-52334163
GRCh38: 6:52469365-52469365
42 EFHC1 NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) Indel Uncertain significance 534109 rs1554259746 GRCh37: 6:52317578-52317586
GRCh38: 6:52452780-52452788
43 EFHC1 NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln) SNV Uncertain significance 534107 rs1554258778 GRCh37: 6:52303195-52303195
GRCh38: 6:52438397-52438397
44 EFHC1 NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn) SNV Uncertain significance 534106 rs750083920 GRCh37: 6:52288867-52288867
GRCh38: 6:52424069-52424069
45 EFHC1 NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) Indel Uncertain significance 534105 rs1554261668 GRCh37: 6:52344494-52344504
GRCh38: 6:52479696-52479706
46 EFHC1 NM_018100.4(EFHC1):c.1641-6C>G SNV Uncertain significance 534104 rs1554262183 GRCh37: 6:52354932-52354932
GRCh38: 6:52490134-52490134
47 EFHC1 NC_000006.12:g.(?_52423789)_(52492432_?)del Deletion Uncertain significance 832614 GRCh37: 6:52288587-52357230
GRCh38:
48 EFHC1 NC_000006.12:g.(?_52479017)_(52492432_?)del Deletion Uncertain significance 833385 GRCh37: 6:52343815-52357230
GRCh38:
49 EFHC1 NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln) SNV Uncertain significance 838176 GRCh37: 6:52344552-52344552
GRCh38: 6:52479754-52479754
50 EFHC1 NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter) SNV Uncertain significance 839103 GRCh37: 6:52329830-52329830
GRCh38: 6:52465032-52465032

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 region GO:0005576 9.26 LALBA CSN3 CSN2 BTN1A1
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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