EIG10
MCID: EPL209
MIFTS: 64

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 57 75 29 6
Juvenile Myoclonic Epilepsy 12 76 53 25 59 37 29 6 15
Janz Syndrome 12 53 25
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 57 13
Generalized Epilepsy with Febrile Seizures Plus Type 5 29 6
Epilepsy, Juvenile Myoclonic 7 29 6
Myoclonic Epilepsy, Juvenile 44 73
Petit Mal, Impulsive 53 25
Eig10 57 75
Jme 53 59
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 10 40
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 57
Epilepsy, Idiopathic Generalized, Susceptibility to, 10 57
Generalized Epilepsy with Febrile Seizures Plus, Type 5 73
Susceptibility to Idiopathic Generalized Epilepsy 10 75
Generalized Epilepsy with Febrile Seizures Plus 5 75
Epilepsy, Juvenile Myoclonic, Susceptibility to 57
Susceptibility to Juvenile Myoclonic Epilepsy 7 75
Epilepsy, Idiopathic Generalized, 10 57
Myoclonic Epilepsy, Juvenile, 1 53
Adolescent Myoclonic Epilepsy 25
Juvenile Myoclonic Epilepsy 7 75
Epilepsy, Myoclonic, Juvenile 40
Epilepsy, Juvenile Myoclonic 57
Juvenile Myoclonus Epilepsy 59
Myoclonic Epilepsy Juvenile 55
Gefs+ Type 5 75
Gefsp5 75
Gefs+5 75
Ejm7 75
Ejm 53

Characteristics:

Orphanet epidemiological data:

59
juvenile myoclonic epilepsy
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy;

OMIM:

57
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:

32
epilepsy, idiopathic generalized 10:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613060
Disease Ontology 12 DOID:4890
NCIt 50 C84796
SNOMED-CT 68 6204001
Orphanet 59 ORPHA307
MESH via Orphanet 45 D020190
UMLS via Orphanet 74 C0270853
ICD10 via Orphanet 34 G40.3
KEGG 37 H02217

Summaries for Epilepsy, Idiopathic Generalized 10

Genetics Home Reference : 25 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 abnormality of eye movement and eeg with polyspike wave complexes

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 : 53 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 : 57 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 : 75 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 : 76 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

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 epilepsy, myoclonic juvenile 32.1 CACNB4 EFHC1
2 juvenile absence epilepsy 31.8 CLCN2 EFHC1 GABRA1 GJA8
3 epilepsy, idiopathic generalized 31.1 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1
4 early myoclonic encephalopathy 31.1 GABRG2 SCN1A TBC1D24
5 focal epilepsy 30.5 CHRNA4 GABRD GABRG2 KCNA1 SCN1A TBC1D24
6 epilepsy 30.4 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1
7 febrile seizures 30.3 CHRNA4 GABRD GABRG2 SCN1A
8 seizure disorder 30.3 ICK SCN1A TBC1D24
9 benign epilepsy with centrotemporal spikes 30.3 GABRG2 KCNQ3 SLC12A6 TBC1D24
10 childhood absence epilepsy 30.1 CHRNA4 CLCN2 EFHC1 GABBR1 GABRA1 GABRG2
11 myoclonic epilepsy, juvenile 4 12.4
12 myoclonic epilepsy, juvenile 3 12.4
13 epilepsy, juvenile myoclonic 10 12.4
14 epilepsy, juvenile myoclonic 9 12.3
15 epilepsy, idiopathic generalized 7 11.6
16 photoparoxysmal response 1 11.2
17 myoclonic epilepsy of unverricht and lundborg 11.2
18 epilepsy, idiopathic generalized 11 11.1
19 epilepsy, idiopathic generalized 9 11.0
20 epilepsy, idiopathic generalized 13 11.0
21 status epilepticus 10.5
22 temporal lobe epilepsy 10.4
23 myoclonic epilepsy of infancy 10.3 GABRG2 SCN1A
24 myoclonus 10.2
25 headache 10.2
26 episodic ataxia, type 2 10.2 CACNB4 KCNA1
27 unverricht-lundborg syndrome 10.2 EFHC1 KCNQ3 TBC1D24
28 malignant migrating partial seizures of infancy 10.2 SCN1A TBC1D24
29 agenesis of the corpus callosum with peripheral neuropathy 10.2 CLCN2 SLC12A6 TBC1D24
30 infancy electroclinical syndrome 10.2 GABRG2 SCN1A TBC1D24
31 neonatal period electroclinical syndrome 10.2 KCNQ3 SCN1A TBC1D24
32 cataract 1, multiple types 10.2 GABRG2 GJA8
33 photosensitive epilepsy 10.2 BRD2 GJA8
34 benign neonatal seizures 10.2 KCNA1 KCNQ3
35 lennox-gastaut syndrome 10.2 GABRA1 GABRG2 SCN1A TBC1D24
36 autosomal recessive disease 10.2
37 personality disorder 10.2
38 tremor 10.2
39 epilepsy with generalized tonic-clonic seizures 10.2 EFHC1 PAQR8 SCN1A TBC1D24
40 early infantile epileptic encephalopathy 10.2 KCNA1 SCN1A TBC1D24
41 episodic ataxia, type 1 10.1 CACNB4 KCNA1
42 seizures, benign familial infantile, 3 10.1 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
43 epilepsy, nocturnal frontal lobe, 1 10.1 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
44 myoclonus epilepsy 10.1
45 epileptic encephalopathy, early infantile, 6 10.1 GABRA1 GABRD GABRG2 KCNQ3 SCN1A TBC1D24
46 childhood electroclinical syndrome 10.1 EFHC1 GABRA1 GABRG2 GJA8 KCNQ3 TBC1D24
47 benign familial neonatal epilepsy 10.1 KCNQ3 TBC1D24
48 multiple sclerosis 10.0
49 velocardiofacial syndrome 10.0
50 wolff-parkinson-white 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
febrile seizures
seizures, generalized, associated with fever
myoclonic seizures
more

Clinical features from OMIM:

613060

Human phenotypes related to Epilepsy, Idiopathic Generalized 10:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
2 eeg with polyspike wave complexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0002392
3 morning myoclonic jerks 59 32 hallmark (90%) Very frequent (99-80%) HP:0007000
4 abnormality of the mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000153
5 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
6 febrile seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002373
7 photosensitive tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0007207
8 aggressive behavior 59 32 very rare (1%) Very rare (<4-1%) HP:0000718
9 status epilepticus 59 32 very rare (1%) Very rare (<4-1%) HP:0002133
10 intellectual disability 59 Excluded (0%)
11 generalized myoclonic seizures 32 HP:0002123
12 generalized tonic-clonic seizures 32 HP:0002069
13 generalized seizures 59 Very frequent (99-80%)
14 focal-onset seizure 32 HP:0007359

UMLS symptoms related to Epilepsy, Idiopathic Generalized 10:


myoclonus, absence seizures

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 10:

46
# 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

Search Clinical Trials , 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 29 EFHC1
2 Epilepsy, Juvenile Myoclonic 7 29
3 Epilepsy, Idiopathic Generalized 10 29 GABRD
4 Generalized Epilepsy with Febrile Seizures Plus Type 5 29

Anatomical Context for Epilepsy, Idiopathic Generalized 10

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

41
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 520)
# Title Authors Year
1
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? ( 29490292 )
2018
2
Wolff-Parkinson-White Syndrome in a Patient with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome Mimicking Juvenile Myoclonic Epilepsy. ( 29629547 )
2018
3
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
4
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. ( 29539279 )
2018
5
Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex. ( 30527355 )
2018
6
Psychosocial complications in juvenile myoclonic epilepsy. ( 30530133 )
2018
7
Antiepileptic drug withdrawal in juvenile myoclonic epilepsy. ( 30378684 )
2018
8
Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity. ( 30248569 )
2018
9
Progressive dissociation of cortical and subcortical network development in children with new-onset juvenile myoclonic epilepsy. ( 30281148 )
2018
10
Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. ( 30223294 )
2018
11
Prevalence and clinical characteristics of headache in juvenile myoclonic epilepsy: experience from a tertiary epilepsy center. ( 29327224 )
2018
12
Aberrant Thalamocortical Connectivity in Juvenile Myoclonic Epilepsy. ( 28830309 )
2018
13
Subcortical grey matter changes in juvenile myoclonic epilepsy. ( 29159052 )
2018
14
The "Cinderella Syndrome": A narrative study of social curfews and lifestyle restrictions in juvenile myoclonic epilepsy. ( 29179101 )
2018
15
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. ( 29194766 )
2018
16
Juvenile myoclonic epilepsy - An insider's guide. ( 29223414 )
2018
17
Juvenile myoclonic epilepsy and sleep. ( 29358100 )
2018
18
Impact of sleep disorders on the risk of seizure recurrence in juvenile myoclonic epilepsy. ( 29396358 )
2018
19
Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center. ( 29602081 )
2018
20
DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians. ( 29608786 )
2018
21
Risky Decision Making in Juvenile Myoclonic Epilepsy. ( 29632513 )
2018
22
Altered Structural and Functional Connectivity of Juvenile Myoclonic Epilepsy: An fMRI Study. ( 29681927 )
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
The genetic basis of juvenile myoclonic epilepsy. ( 29778354 )
2018
26
Changes in Dynamics Within and Between Resting-State Subnetworks in Juvenile Myoclonic Epilepsy Occur at Multiple Frequency Bands. ( 29963004 )
2018
27
Juvenile Myoclonic Epilepsy Shows Potential Structural White Matter Abnormalities: A TBSS Study. ( 30008695 )
2018
28
Frontal lobe cognitive functions and electroencephalographic features in juvenile myoclonic epilepsy. ( 30017834 )
2018
29
Higher IQ in juvenile myoclonic epilepsy: Dodging cognitive obstacles and "masking" impairments. ( 30017836 )
2018
30
Sleep architecture in patients with Juvenile Myoclonic Epilepsy. ( 29031745 )
2017
31
Proton spectroscopy of the thalamus in a homogeneous sample of patients with easy-to-control juvenile myoclonic epilepsy. ( 29085160 )
2017
32
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. ( 27467453 )
2017
33
Prevalence of juvenile myoclonic epilepsy in people &amp;lt;30 years of age-A population-based study in Norway. ( 27861775 )
2017
34
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. ( 28370826 )
2017
35
Altered Network Characteristics of Spike-Wave Discharges in Juvenile Myoclonic Epilepsy. ( 26697882 )
2017
36
Juvenile myoclonic epilepsy: Challenges on its 60th anniversary. ( 27665373 )
2017
37
Juvenile myoclonic epilepsy may be a disorder of cortex rather than thalamus: An effective connectivity analysis. ( 27765558 )
2017
38
The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivity. ( 27912171 )
2017
39
Source localization of epileptiform discharges in juvenile myoclonic epilepsy (JME) using magnetoencephalography (MEG). ( 27918962 )
2017
40
Generalized epilepsy syndromes and callosal thickness: Differential effects between patients with juvenile myoclonic epilepsy and those with generalized tonic-clonic seizures alone. ( 27923174 )
2017
41
Comparing sleep profiles between patients with juvenile myoclonic epilepsy and symptomatic partial epilepsy: Sleep questionnaire-based study. ( 28012415 )
2017
42
Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation. ( 28220292 )
2017
43
Topiramate monotherapy for juvenile myoclonic epilepsy. ( 28434203 )
2017
44
Prolonged epileptiform EEG runs are associated with persistent seizures in juvenile myoclonic epilepsy. ( 28527369 )
2017
45
Juvenile myoclonic epilepsy as a spectrum disorder: A focused review. ( 28544889 )
2017
46
Microstructural alterations of white matter in juvenile myoclonic epilepsy. ( 28549335 )
2017
47
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies. ( 28636645 )
2017
48
Sleep abnormalities in juvenile myoclonic epilepsy-A sleep questionnaire and polysomnography based study. ( 28704743 )
2017
49
Chromosomal Micro-aberration in a Saudi Family with Juvenile Myoclonic Epilepsy. ( 28758580 )
2017
50
Juvenile Myoclonic Epilepsy with Frontal Executive Dysfunction is Associated with Reduced Gray Matter Volume by Voxel-based Morphometry. ( 28904460 )
2017

Variations for Epilepsy, Idiopathic Generalized 10

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

75
# 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 614)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFHC1 NM_018100.3(EFHC1): c.545G> A (p.Arg182His) single nucleotide variant Benign rs3804505 GRCh37 Chromosome 6, 52303361: 52303361
2 EFHC1 NM_018100.3(EFHC1): c.545G> A (p.Arg182His) single nucleotide variant Benign rs3804505 GRCh38 Chromosome 6, 52438563: 52438563
3 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh37 Chromosome 6, 52317597: 52317597
4 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh38 Chromosome 6, 52452799: 52452799
5 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh37 Chromosome 6, 52317540: 52317540
6 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh38 Chromosome 6, 52452742: 52452742
7 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh37 Chromosome 6, 52288909: 52288909
8 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh38 Chromosome 6, 52424111: 52424111
9 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
10 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
11 GABRD NM_000815.4(GABRD): c.530A> C (p.Glu177Ala) single nucleotide variant risk factor rs121434580 GRCh37 Chromosome 1, 1959075: 1959075
12 GABRD NM_000815.4(GABRD): c.530A> C (p.Glu177Ala) single nucleotide variant risk factor rs121434580 GRCh38 Chromosome 1, 2027636: 2027636
13 GABRD NM_000815.4(GABRD): c.659G> A (p.Arg220His) single nucleotide variant risk factor rs41307846 GRCh37 Chromosome 1, 1959699: 1959699
14 GABRD NM_000815.4(GABRD): c.659G> A (p.Arg220His) single nucleotide variant risk factor rs41307846 GRCh38 Chromosome 1, 2028260: 2028260
15 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh37 Chromosome 6, 52317574: 52317574
16 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh38 Chromosome 6, 52452776: 52452776
17 GABRA1 NM_000806.5(GABRA1): c.1059+15G> A single nucleotide variant Benign/Likely benign rs2279020 GRCh37 Chromosome 5, 161322889: 161322889
18 GABRA1 NM_000806.5(GABRA1): c.1059+15G> A single nucleotide variant Benign/Likely benign rs2279020 GRCh38 Chromosome 5, 161895883: 161895883
19 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh37 Chromosome 6, 52317541: 52317541
20 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh38 Chromosome 6, 52452743: 52452743
21 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh37 Chromosome 2, 152698480: 152698480
22 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh38 Chromosome 2, 151841966: 151841966
23 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh37 Chromosome 2, 152695896: 152695896
24 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh38 Chromosome 2, 151839382: 151839382
25 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh37 Chromosome 2, 152717331: 152717331
26 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh38 Chromosome 2, 151860817: 151860817
27 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh37 Chromosome 6, 52334148: 52334148
28 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh38 Chromosome 6, 52469350: 52469350
29 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh37 Chromosome 6, 52334217: 52334217
30 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh38 Chromosome 6, 52469419: 52469419
31 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh37 Chromosome 6, 52343899: 52343899
32 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh38 Chromosome 6, 52479101: 52479101
33 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh37 Chromosome 6, 52343941: 52343941
34 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh38 Chromosome 6, 52479143: 52479143
35 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh37 Chromosome 6, 52355109: 52355109
36 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh38 Chromosome 6, 52490311: 52490311
37 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh37 Chromosome 6, 52357062: 52357062
38 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh38 Chromosome 6, 52492264: 52492264
39 EFHC1 NM_018100.3(EFHC1): c.1855A> C (p.Ile619Leu) single nucleotide variant Benign/Likely benign rs17851770 GRCh37 Chromosome 6, 52357071: 52357071
40 EFHC1 NM_018100.3(EFHC1): c.1855A> C (p.Ile619Leu) single nucleotide variant Benign/Likely benign rs17851770 GRCh38 Chromosome 6, 52492273: 52492273
41 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh37 Chromosome 6, 52285233: 52285233
42 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh38 Chromosome 6, 52420435: 52420435
43 EFHC1 NM_018100.3(EFHC1): c.475C> T (p.Arg159Trp) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
44 EFHC1 NM_018100.3(EFHC1): c.475C> T (p.Arg159Trp) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
45 EFHC1 NM_018100.3(EFHC1): c.573+10A> G single nucleotide variant Benign/Likely benign rs9349626 GRCh37 Chromosome 6, 52303399: 52303399
46 EFHC1 NM_018100.3(EFHC1): c.573+10A> G single nucleotide variant Benign/Likely benign rs9349626 GRCh38 Chromosome 6, 52438601: 52438601
47 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh37 Chromosome 6, 52319050: 52319050
48 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh38 Chromosome 6, 52454252: 52454252
49 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh37 Chromosome 6, 52288770: 52288770
50 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh38 Chromosome 6, 52423972: 52423972

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 CHRNA4 GABBR1 GRM4 KCNQ3 SCN1A
2
Show member pathways
12.55 CACNB4 CHRNA4 GABBR1 GABRA1 GABRG2 KCNA1
3
Show member pathways
12.18 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 10.86 CHRNA4 GABRA1 GABRD GABRG2
8
Show member pathways
10.58 GABRA1 GABRG2
9 10.46 GABBR1 GRM4
10 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 synapse GO:0045202 9.91 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 KCNA1
2 neuronal cell body GO:0043025 9.83 CHRNA4 EFHC1 KCNA1 SCN1A
3 postsynaptic membrane GO:0045211 9.8 CHRNA4 GABBR1 GABRA1 GABRD GABRG2
4 cell junction GO:0030054 9.76 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 GJA8
5 presynaptic membrane GO:0042734 9.63 GABBR1 GRM4 KCNA1
6 GABA-ergic synapse GO:0098982 9.62 GABBR1 GABRA1 GABRD GABRG2
7 GABA-A receptor complex GO:1902711 9.54 GABRA1 GABRD GABRG2
8 axon initial segment GO:0043194 9.51 KCNQ3 SCN1A
9 node of Ranvier GO:0033268 9.49 KCNQ3 SCN1A
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 10.29 CHRNA4 CLCN2 GABBR1 GABRA1 GABRD GABRG2
13 plasma membrane GO:0005886 10.13 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 transmembrane transport GO:0055085 9.97 CLCN2 GJA8 KCNA1 KCNQ3 SCN1A SLC12A6
2 ion transmembrane transport GO:0034220 9.85 CHRNA4 CLCN2 GABRA1 GABRD GABRG2 SCN1A
3 ion transport GO:0006811 9.85 CACNB4 CHRNA4 CLCN2 GABRA1 GABRD GABRG2
4 regulation of ion transmembrane transport GO:0034765 9.83 CACNB4 CLCN2 KCNA1 KCNQ3 SCN1A
5 chloride transport GO:0006821 9.76 CLCN2 GABRA1 GABRD GABRG2
6 potassium ion transport GO:0006813 9.74 KCNA1 KCNQ3 SLC12A6
7 potassium ion transmembrane transport GO:0071805 9.73 KCNA1 KCNQ3 SLC12A6
8 regulation of membrane potential GO:0042391 9.73 CHRNA4 GABRA1 GABRD GABRG2 KCNA1 SCN1A
9 chloride transmembrane transport GO:1902476 9.72 CLCN2 GABRA1 GABRD GABRG2 SLC12A6
10 nervous system process GO:0050877 9.71 CHRNA4 GABRA1 GABRD GABRG2
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.65 GABBR1 GABRA1 GABRG2
12 neuronal action potential GO:0019228 9.58 KCNA1 SCN1A
13 membrane depolarization GO:0051899 9.55 CACNB4 CHRNA4
14 synaptic transmission, GABAergic GO:0051932 9.54 GABRA1 GABRG2
15 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.52 KCNA1 SCN1A
16 cellular response to histamine GO:0071420 9.51 GABRA1 GABRG2
17 regulation of postsynaptic membrane potential GO:0060078 9.43 CHRNA4 GABBR1 GABRA1 GABRD GABRG2 KCNA1
18 chemical synaptic transmission GO:0007268 9.28 CACNB4 CHRNA4 GABRA1 GABRD GABRG2 GRM4

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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