EIG10
MCID: EPL209
MIFTS: 61

Epilepsy, Idiopathic Generalized 10 (EIG10)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 10

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 10:

Name: Epilepsy, Idiopathic Generalized 10 58 76 30 6
Juvenile Myoclonic Epilepsy 12 77 54 26 60 38 30 6 15
Janz Syndrome 12 54 26
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 58 13
Generalized Epilepsy with Febrile Seizures Plus Type 5 30 6
Epilepsy, Juvenile Myoclonic 7 30 6
Myoclonic Epilepsy, Juvenile 45 74
Petit Mal, Impulsive 54 26
Eig10 58 76
Jme 54 60
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 10 41
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 58
Epilepsy, Idiopathic Generalized, Susceptibility to, 10 58
Generalized Epilepsy with Febrile Seizures Plus, Type 5 74
Susceptibility to Idiopathic Generalized Epilepsy 10 76
Generalized Epilepsy with Febrile Seizures Plus 5 76
Epilepsy, Juvenile Myoclonic, Susceptibility to 58
Susceptibility to Juvenile Myoclonic Epilepsy 7 76
Epilepsy, Idiopathic Generalized, 10 58
Myoclonic Epilepsy, Juvenile, 1 54
Adolescent Myoclonic Epilepsy 26
Juvenile Myoclonic Epilepsy 7 76
Epilepsy, Myoclonic, Juvenile 41
Epilepsy, Juvenile Myoclonic 58
Juvenile Myoclonus Epilepsy 60
Myoclonic Epilepsy Juvenile 56
Gefs+ Type 5 76
Gefsp5 76
Gefs+5 76
Ejm7 76
Ejm 54

Characteristics:

Orphanet epidemiological data:

60
juvenile myoclonic epilepsy
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset of febrile seizures typically between 6 months and 6 years of age
simple febrile seizures usually remit by age 6 years
some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
some patients have juvenile-onset myoclonic epilepsy


HPO:

33
epilepsy, idiopathic generalized 10:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4890
OMIM 58 613060
KEGG 38 H02217
NCIt 51 C84796
SNOMED-CT 69 6204001
MESH via Orphanet 46 D020190
ICD10 via Orphanet 35 G40.3
UMLS via Orphanet 75 C0270853
Orphanet 60 ORPHA307

Summaries for Epilepsy, Idiopathic Generalized 10

Genetics Home Reference : 26 Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.

MalaCards based summary : Epilepsy, Idiopathic Generalized 10, also known as juvenile myoclonic epilepsy, is related to epilepsy, myoclonic juvenile and juvenile absence epilepsy, and has symptoms including myoclonus and absence seizures. An important gene associated with Epilepsy, Idiopathic Generalized 10 is GABRD (Gamma-Aminobutyric Acid Type A Receptor Delta Subunit), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include brain, eye and cortex, and related phenotypes are eeg with polyspike wave complexes and morning myoclonic jerks

Disease Ontology : 12 A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.

NIH Rare Diseases : 54 Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The causes of juvenile myoclonic epilepsy are very complex and not completely understood. Mutations in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.

OMIM : 58 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see 600669. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see 254770. (613060)

UniProtKB/Swiss-Prot : 76 Epilepsy, idiopathic generalized 10: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Generalized epilepsy with febrile seizures plus 5: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Juvenile myoclonic epilepsy 7: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

Wikipedia : 77 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of generalized... more...

Related Diseases for Epilepsy, Idiopathic Generalized 10

Diseases in the Epilepsy, Idiopathic Generalized family:

Epilepsy, Idiopathic Generalized 7 Epilepsy, Idiopathic Generalized 2
Epilepsy, Idiopathic Generalized 11 Epilepsy, Idiopathic Generalized 9
Epilepsy, Idiopathic Generalized 3 Epilepsy, Idiopathic Generalized 4
Epilepsy, Idiopathic Generalized 13 Epilepsy, Idiopathic Generalized 5
Epilepsy, Idiopathic Generalized 8 Epilepsy, Idiopathic Generalized 10
Epilepsy, Idiopathic Generalized 12 Epilepsy, Idiopathic Generalized 14
Epilepsy, Idiopathic Generalized 15

Diseases related to Epilepsy, Idiopathic Generalized 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 epilepsy, myoclonic juvenile 32.6 CACNB4 EFHC1
2 juvenile absence epilepsy 32.0 CLCN2 EFHC1 GABRA1 GJA8
3 epilepsy, idiopathic generalized 31.1 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1
4 focal epilepsy 30.7 CHRNA4 GABRD GABRG2 KCNA1 SCN1A
5 benign epilepsy with centrotemporal spikes 30.5 GABRG2 KCNQ3 SLC12A6
6 febrile seizures 30.5 CHRNA4 GABRD GABRG2 SCN1A
7 epilepsy 30.4 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1
8 childhood absence epilepsy 30.0 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1 GABRG2
9 myoclonic epilepsy, juvenile 4 12.4
10 myoclonic epilepsy, juvenile 3 12.4
11 epilepsy, juvenile myoclonic 10 12.4
12 epilepsy, juvenile myoclonic 9 12.3
13 epilepsy, idiopathic generalized 7 11.6
14 photoparoxysmal response 1 11.2
15 epilepsy, idiopathic generalized 11 11.1
16 epilepsy, idiopathic generalized 9 11.1
17 epilepsy, idiopathic generalized 13 11.1
18 status epilepticus 10.5
19 early myoclonic encephalopathy 10.5
20 temporal lobe epilepsy 10.4
21 myoclonic epilepsy of infancy 10.4 GABRG2 SCN1A
22 agenesis of the corpus callosum with peripheral neuropathy 10.4 CLCN2 SLC12A6
23 seizure disorder 10.4
24 episodic ataxia, type 2 10.4 CACNB4 KCNA1
25 lennox-gastaut syndrome 10.3 GABRA1 GABRG2 SCN1A
26 epilepsy with generalized tonic-clonic seizures 10.3 EFHC1 PAQR8 SCN1A
27 benign neonatal seizures 10.3 KCNA1 KCNQ3
28 cataract 1, multiple types 10.3 GABRG2 GJA8
29 episodic ataxia, type 1 10.3 CACNB4 KCNA1
30 headache 10.3
31 childhood electroclinical syndrome 10.2 EFHC1 GABRA1 GABRG2 GJA8 KCNQ3
32 epileptic encephalopathy, early infantile, 6 10.2 GABRA1 GABRD GABRG2 KCNQ3 SCN1A
33 infancy electroclinical syndrome 10.2 GABRG2 SCN1A
34 seizures, benign familial infantile, 3 10.2 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
35 generalized epilepsy with febrile seizures plus 10.2 GABRD GABRG2 KCNQ3 ME2 SCN1A
36 epilepsy, nocturnal frontal lobe, 1 10.2 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
37 autosomal recessive disease 10.2
38 personality disorder 10.2
39 tremor 10.2
40 unverricht-lundborg syndrome 10.1 EFHC1 KCNQ3
41 myoclonus epilepsy 10.1
42 myoclonus 10.0
43 multiple sclerosis 10.0
44 velocardiofacial syndrome 10.0
45 wolff-parkinson-white syndrome 10.0
46 panencephalitis, subacute sclerosing 10.0
47 cognitive function 1, social 10.0
48 corpus callosum, partial agenesis of, x-linked 10.0
49 epilepsy, juvenile absence 1 10.0
50 west syndrome 10.0

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 10:



Diseases related to Epilepsy, Idiopathic Generalized 10

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 10

Human phenotypes related to Epilepsy, Idiopathic Generalized 10:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with polyspike wave complexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0002392
2 morning myoclonic jerks 60 33 hallmark (90%) Very frequent (99-80%) HP:0007000
3 abnormality of eye movement 60 33 frequent (33%) Frequent (79-30%) HP:0000496
4 abnormality of the mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000153
5 febrile seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002373
6 photosensitive tonic-clonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0007207
7 absence seizure 33 occasional (7.5%) HP:0002121
8 aggressive behavior 60 33 very rare (1%) Very rare (<4-1%) HP:0000718
9 status epilepticus 60 33 very rare (1%) Very rare (<4-1%) HP:0002133
10 intellectual disability 60 Excluded (0%)
11 generalized myoclonic seizures 33 HP:0002123
12 generalized tonic-clonic seizures 33 HP:0002069
13 generalized seizures 60 Very frequent (99-80%)
14 absence seizures 60 Occasional (29-5%)
15 focal-onset seizure 33 HP:0007359

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
febrile seizures
myoclonic seizures
seizures, generalized, associated with fever
more

Clinical features from OMIM:

613060

UMLS symptoms related to Epilepsy, Idiopathic Generalized 10:


myoclonus, absence seizures

GenomeRNAi Phenotypes related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 10:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1
2 nervous system MP:0003631 9.83 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1
3 hearing/vestibular/ear MP:0005377 9.63 BRD2 CACNB4 GABRA1 GABRD KCNA1 SLC12A6
4 reproductive system MP:0005389 9.23 CACNB4 CLCN2 GABBR1 GABRA1 GABRD GABRG2

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
2 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371

Search NIH Clinical Center for Epilepsy, Idiopathic Generalized 10

Cochrane evidence based reviews: myoclonic epilepsy, juvenile

Genetic Tests for Epilepsy, Idiopathic Generalized 10

Genetic tests related to Epilepsy, Idiopathic Generalized 10:

# Genetic test Affiliating Genes
1 Juvenile Myoclonic Epilepsy 30
2 Epilepsy, Juvenile Myoclonic 7 30
3 Epilepsy, Idiopathic Generalized 10 30 GABRD
4 Generalized Epilepsy with Febrile Seizures Plus Type 5 30

Anatomical Context for Epilepsy, Idiopathic Generalized 10

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 10:

42
Brain, Eye, Cortex, Temporal Lobe, Thalamus, Heart, Testes

Publications for Epilepsy, Idiopathic Generalized 10

Articles related to Epilepsy, Idiopathic Generalized 10:

(show top 50) (show all 527)
# Title Authors Year
1
BOLD-fMRI activity informed by network variation of scalp EEG in juvenile myoclonic epilepsy. ( 30897433 )
2019
2
Structural and functional connectivity in newly diagnosed juvenile myoclonic epilepsy. ( 30758836 )
2019
3
Methylation of cation-chloride cotransporters NKCC1 and KCC2 in patients with juvenile myoclonic epilepsy. ( 30759289 )
2019
4
EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling. ( 30810526 )
2019
5
Topiramate for juvenile myoclonic epilepsy. ( 30687937 )
2019
6
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. ( 30719712 )
2019
7
Treatment of Juvenile Myoclonic Epilepsy in Patients of Child-Bearing Potential. ( 30747367 )
2019
8
Psychosocial complications in juvenile myoclonic epilepsy. ( 30530133 )
2019
9
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? ( 29490292 )
2018
10
Wolff-Parkinson-White Syndrome in a Patient with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome Mimicking Juvenile Myoclonic Epilepsy. ( 29629547 )
2018
11
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
12
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. ( 29539279 )
2018
13
Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex. ( 30527355 )
2018
14
Antiepileptic drug withdrawal in juvenile myoclonic epilepsy. ( 30378684 )
2018
15
Progressive dissociation of cortical and subcortical network development in children with new-onset juvenile myoclonic epilepsy. ( 30281148 )
2018
16
Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. ( 30223294 )
2018
17
Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity. ( 30248569 )
2018
18
Juvenile Myoclonic Epilepsy Shows Potential Structural White Matter Abnormalities: A TBSS Study. ( 30008695 )
2018
19
Frontal lobe cognitive functions and electroencephalographic features in juvenile myoclonic epilepsy. ( 30017834 )
2018
20
Higher IQ in juvenile myoclonic epilepsy: Dodging cognitive obstacles and "masking" impairments. ( 30017836 )
2018
21
Changes in Dynamics Within and Between Resting-State Subnetworks in Juvenile Myoclonic Epilepsy Occur at Multiple Frequency Bands. ( 29963004 )
2018
22
The genetic basis of juvenile myoclonic epilepsy. ( 29778354 )
2018
23
Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types. ( 29729533 )
2018
24
Juvenile Myoclonic Epilepsy Presenting with Neurocognitive Impairment: A Case Report. ( 29736355 )
2018
25
Risky Decision Making in Juvenile Myoclonic Epilepsy. ( 29632513 )
2018
26
Altered Structural and Functional Connectivity of Juvenile Myoclonic Epilepsy: An fMRI Study. ( 29681927 )
2018
27
Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center. ( 29602081 )
2018
28
DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians. ( 29608786 )
2018
29
Impact of sleep disorders on the risk of seizure recurrence in juvenile myoclonic epilepsy. ( 29396358 )
2018
30
Prevalence and clinical characteristics of headache in juvenile myoclonic epilepsy: experience from a tertiary epilepsy center. ( 29327224 )
2018
31
Juvenile myoclonic epilepsy and sleep. ( 29358100 )
2018
32
Aberrant Thalamocortical Connectivity in Juvenile Myoclonic Epilepsy. ( 28830309 )
2018
33
Subcortical grey matter changes in juvenile myoclonic epilepsy. ( 29159052 )
2018
34
The "Cinderella Syndrome": A narrative study of social curfews and lifestyle restrictions in juvenile myoclonic epilepsy. ( 29179101 )
2018
35
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. ( 29194766 )
2018
36
Juvenile myoclonic epilepsy - An insider's guide. ( 29223414 )
2018
37
Sleep architecture in patients with Juvenile Myoclonic Epilepsy. ( 29031745 )
2017
38
Proton spectroscopy of the thalamus in a homogeneous sample of patients with easy-to-control juvenile myoclonic epilepsy. ( 29085160 )
2017
39
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. ( 27467453 )
2017
40
Prevalence of juvenile myoclonic epilepsy in people &amp;lt;30 years of age-A population-based study in Norway. ( 27861775 )
2017
41
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. ( 28370826 )
2017
42
Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review. ( 29344465 )
2017
43
Altered Network Characteristics of Spike-Wave Discharges in Juvenile Myoclonic Epilepsy. ( 26697882 )
2017
44
Juvenile myoclonic epilepsy: Challenges on its 60th anniversary. ( 27665373 )
2017
45
Juvenile myoclonic epilepsy may be a disorder of cortex rather than thalamus: An effective connectivity analysis. ( 27765558 )
2017
46
The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity. ( 27912171 )
2017
47
Source localization of epileptiform discharges in juvenile myoclonic epilepsy (JME) using magnetoencephalography (MEG). ( 27918962 )
2017
48
Generalized epilepsy syndromes and callosal thickness: Differential effects between patients with juvenile myoclonic epilepsy and those with generalized tonic-clonic seizures alone. ( 27923174 )
2017
49
Comparing sleep profiles between patients with juvenile myoclonic epilepsy and symptomatic partial epilepsy: Sleep questionnaire-based study. ( 28012415 )
2017
50
Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation. ( 28220292 )
2017

Variations for Epilepsy, Idiopathic Generalized 10

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 10:

76
# Symbol AA change Variation ID SNP ID
1 GABRD p.Glu177Ala VAR_043151 rs121434580

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 10:

6 (show top 50) (show all 616)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
2 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
3 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
4 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
5 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Benign/Likely benign rs556761275 GRCh37 Chromosome 2, 152695629: 152695629
6 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Benign/Likely benign rs556761275 GRCh38 Chromosome 2, 151839115: 151839115
7 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
8 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
9 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
10 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
11 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
12 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
13 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
14 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
15 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh37 Chromosome 2, 152955518: 152955518
16 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh38 Chromosome 2, 152099004: 152099004
17 GABRA1 NM_000806.5(GABRA1): c.-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375475234 GRCh38 Chromosome 5, 161850807: 161850807
18 GABRA1 NM_000806.5(GABRA1): c.-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375475234 GRCh37 Chromosome 5, 161277813: 161277813
19 EFHC1 NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs750899949 GRCh37 Chromosome 6, 52285251: 52285251
20 EFHC1 NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs750899949 GRCh38 Chromosome 6, 52420453: 52420453
21 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh38 Chromosome 6, 52423950: 52423950
22 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh37 Chromosome 6, 52288748: 52288748
23 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh37 Chromosome 6, 52288777: 52288777
24 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh38 Chromosome 6, 52423979: 52423979
25 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh37 Chromosome 6, 52288831: 52288831
26 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh38 Chromosome 6, 52424033: 52424033
27 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh38 Chromosome 6, 52424148: 52424148
28 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh37 Chromosome 6, 52288946: 52288946
29 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh38 Chromosome 6, 52438565: 52438565
30 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh37 Chromosome 6, 52303363: 52303363
31 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh37 Chromosome 6, 52317573: 52317573
32 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh38 Chromosome 6, 52452775: 52452775
33 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh38 Chromosome 6, 52454102: 52454102
34 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh37 Chromosome 6, 52318900: 52318900
35 EFHC1 NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145754721 GRCh38 Chromosome 6, 52454150: 52454150
36 EFHC1 NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145754721 GRCh37 Chromosome 6, 52318948: 52318948
37 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh37 Chromosome 6, 52318986: 52318986
38 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh38 Chromosome 6, 52454188: 52454188
39 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh38 Chromosome 6, 52465035: 52465035
40 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh37 Chromosome 6, 52329833: 52329833
41 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh37 Chromosome 6, 52329890: 52329890
42 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh38 Chromosome 6, 52465092: 52465092
43 EFHC1 NM_018100.3(EFHC1): c.1370G> T (p.Arg457Leu) single nucleotide variant Uncertain significance rs369468811 GRCh38 Chromosome 6, 52479128: 52479128
44 EFHC1 NM_018100.3(EFHC1): c.1370G> T (p.Arg457Leu) single nucleotide variant Uncertain significance rs369468811 GRCh37 Chromosome 6, 52343926: 52343926
45 EFHC1 NM_018100.3(EFHC1): c.1451A> G (p.Tyr484Cys) single nucleotide variant Uncertain significance rs201261630 GRCh37 Chromosome 6, 52344007: 52344007
46 EFHC1 NM_018100.3(EFHC1): c.1451A> G (p.Tyr484Cys) single nucleotide variant Uncertain significance rs201261630 GRCh38 Chromosome 6, 52479209: 52479209
47 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh37 Chromosome 6, 52344502: 52344502
48 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh38 Chromosome 6, 52479704: 52479704
49 EFHC1 NM_018100.3(EFHC1): c.1612C> T (p.Arg538Ter) single nucleotide variant Pathogenic rs149998588 GRCh38 Chromosome 6, 52479759: 52479759
50 EFHC1 NM_018100.3(EFHC1): c.1612C> T (p.Arg538Ter) single nucleotide variant Pathogenic rs149998588 GRCh37 Chromosome 6, 52344557: 52344557

Expression for Epilepsy, Idiopathic Generalized 10

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 10.

Pathways for Epilepsy, Idiopathic Generalized 10

Pathways related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 CHRNA4 GABBR1 GRM4 KCNQ3 SCN1A
2
Show member pathways
12.55 CACNB4 CHRNA4 GABBR1 GABRA1 GABRG2 KCNA1
3
Show member pathways
12.19 GABBR1 GABRA1 GABRD GABRG2
4
Show member pathways
11.8 GABBR1 KCNA1 KCNQ3
5
Show member pathways
11.74 GABBR1 GABRA1 GABRG2
6
Show member pathways
11.67 GABBR1 GABRA1 GRM4
7 10.97 KCNQ3 SCN1A
8 10.86 CHRNA4 GABRA1 GABRD GABRG2
9
Show member pathways
10.58 GABRA1 GABRG2
10 10.46 GABBR1 GRM4
11 10.15 GABBR1 GABRA1 GABRD GABRG2

GO Terms for Epilepsy, Idiopathic Generalized 10

Cellular components related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.95 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 GJA8
2 synapse GO:0045202 9.91 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 KCNA1
3 neuronal cell body GO:0043025 9.83 CHRNA4 EFHC1 KCNA1 SCN1A
4 postsynaptic membrane GO:0045211 9.72 CHRNA4 GABBR1 GABRA1 GABRD GABRG2
5 presynaptic membrane GO:0042734 9.65 GABBR1 GRM4 KCNA1
6 axon initial segment GO:0043194 9.51 KCNQ3 SCN1A
7 node of Ranvier GO:0033268 9.49 KCNQ3 SCN1A
8 GABA-ergic synapse GO:0098982 9.46 GABBR1 GABRA1 GABRD GABRG2
9 GABA-A receptor complex GO:1902711 9.43 GABRA1 GABRD GABRG2
10 integral component of plasma membrane GO:0005887 9.36 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD GABRG2
11 chloride channel complex GO:0034707 9.26 CLCN2 GABRA1 GABRD GABRG2
12 integral component of membrane GO:0016021 10.3 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD GABRG2
13 plasma membrane GO:0005886 10.21 CACNB4 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD

Biological processes related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.85 CHRNA4 CLCN2 GABRA1 GABRD GABRG2 SCN1A
2 ion transport GO:0006811 9.85 CACNB4 CHRNA4 CLCN2 GABRA1 GABRD GABRG2
3 regulation of ion transmembrane transport GO:0034765 9.83 CACNB4 CLCN2 KCNA1 KCNQ3 SCN1A
4 chloride transport GO:0006821 9.78 CLCN2 GABRA1 GABRD GABRG2
5 potassium ion transport GO:0006813 9.74 KCNA1 KCNQ3 SLC12A6
6 potassium ion transmembrane transport GO:0071805 9.73 KCNA1 KCNQ3 SLC12A6
7 regulation of membrane potential GO:0042391 9.73 CHRNA4 GABRA1 GABRD GABRG2 KCNA1 SCN1A
8 chloride transmembrane transport GO:1902476 9.72 CLCN2 GABRA1 GABRD GABRG2 SLC12A6
9 nervous system process GO:0050877 9.71 CHRNA4 GABRA1 GABRD GABRG2
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.67 GABBR1 GABRA1 GABRG2
11 neuronal action potential GO:0019228 9.58 KCNA1 SCN1A
12 membrane depolarization GO:0051899 9.55 CACNB4 CHRNA4
13 synaptic transmission, GABAergic GO:0051932 9.54 GABRA1 GABRG2
14 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.52 KCNA1 SCN1A
15 cellular response to histamine GO:0071420 9.51 GABRA1 GABRG2
16 regulation of postsynaptic membrane potential GO:0060078 9.43 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 KCNA1
17 chemical synaptic transmission GO:0007268 9.28 CACNB4 CHRNA4 GABRA1 GABRD GABRG2 GRM4
18 transmembrane transport GO:0055085 10 CLCN2 GJA8 KCNA1 KCNQ3 SCN1A SLC12A6

Molecular functions related to Epilepsy, Idiopathic Generalized 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.63 KCNA1 KCNQ3 SCN1A
2 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.5 GABRA1 GABRD GABRG2
3 chloride channel activity GO:0005254 9.46 CLCN2 GABRA1 GABRD GABRG2
4 GABA-gated chloride ion channel activity GO:0022851 9.43 GABRA1 GABRG2
5 GABA-A receptor activity GO:0004890 9.43 GABRA1 GABRD GABRG2
6 benzodiazepine receptor activity GO:0008503 9.4 GABRA1 GABRG2
7 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.37 GABRA1 GABRG2
8 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNA4 GABRA1 GABRD GABRG2
9 ion channel activity GO:0005216 9.1 CHRNA4 GABRA1 GABRD GABRG2 KCNA1 SCN1A

Sources for Epilepsy, Idiopathic Generalized 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....