EIG
MCID: EPL140
MIFTS: 62

Epilepsy, Idiopathic Generalized (EIG)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized:

Name: Epilepsy, Idiopathic Generalized 57 55
Idiopathic Generalized Epilepsy 57 12 29 6 15 73
Epilepsy, Idiopathic Generalized, Susceptibility to, 1 57 13
Epilepsy, Generalized 44 73
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 1 40
Epilepsy, Idiopathic Generalized, Susceptibility to 6
Idiopathic Generalized Epilepsy; Ige 57
Epilepsy, Idiopathic Generalized 1 57
Epilepsy, Idiopathic, Generalized 40
Generalised Epilepsy 12
Eig 57
Ige 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
comprises several subtypes, including
benign neonatal familial convulsions (see )
childhood absence epilepsy (eca1 )
juvenile absence epilepsy (jae, )
juvenile myoclonic epilepsy (jme, 606904})
epilepsy with grand mal seizures on awakening (egma, )
homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7)


HPO:

32
epilepsy, idiopathic generalized:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600669
Disease Ontology 12 DOID:1827
MeSH 44 D004829
NCIt 50 C3021
SNOMED-CT 68 19598007
MedGen 42 C0270850

Summaries for Epilepsy, Idiopathic Generalized

OMIM : 57 Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. (600669)

MalaCards based summary : Epilepsy, Idiopathic Generalized, also known as idiopathic generalized epilepsy, is related to epilepsy, idiopathic generalized 10 and childhood absence epilepsy, and has symptoms including seizures, absence seizures and myoclonic seizures. An important gene associated with Epilepsy, Idiopathic Generalized is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and L1CAM interactions. The drugs Piracetam and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and cortex, and related phenotypes are generalized myoclonic seizures and generalized tonic-clonic seizures

Disease Ontology : 12 An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.

Wikipedia : 76 Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a... more...

Related Diseases for Epilepsy, Idiopathic Generalized

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 672)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 10 34.0 CACNB4 CLCN2 EFHC1 GABRA1 GABRD GABRG2
2 childhood absence epilepsy 32.3 CACNA1H CLCN2 EFHC1 GABRA1 GABRG2 ME2
3 epilepsy, myoclonic juvenile 32.2 CACNB4 EFHC1
4 benign familial neonatal epilepsy 30.4 KCNQ2 KCNQ3
5 epilepsy 30.4 CACNA1H CACNB4 CLCN2 EFHC1 GABRA1 GABRD
6 febrile seizures 30.3 GABRD GABRG2 KCNQ2 SCN1A
7 focal epilepsy 30.1 CACNA1H GABRD GABRG2 SCN1A
8 epilepsy with generalized tonic-clonic seizures 30.1 CACNA1H EFHC1 SCN1A
9 myoclonic epilepsy of infancy 30.1 GABRG2 SCN1A
10 generalized epilepsy with febrile seizures plus 30.1 EFHC1 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3
11 juvenile absence epilepsy 29.8 CACNA1H CLCN2 EFHC1 GABRA1
12 hyper-ige recurrent infection syndrome, autosomal dominant 12.7
13 epilepsy, idiopathic generalized 8 12.6
14 epilepsy, idiopathic generalized 9 12.6
15 epilepsy, idiopathic generalized 12 12.6
16 epilepsy, idiopathic generalized 11 12.5
17 epilepsy, idiopathic generalized 14 12.5
18 epilepsy, idiopathic generalized 13 12.5
19 hyper ige syndrome 12.5
20 hyper-ige recurrent infection syndrome, autosomal recessive 12.5
21 epilepsy, idiopathic generalized 4 12.4
22 epilepsy, idiopathic generalized 7 12.4
23 epilepsy, idiopathic generalized 2 12.4
24 epilepsy, idiopathic generalized 3 12.4
25 epilepsy, idiopathic generalized 5 12.4
26 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.4
27 congenital disorder of glycosylation, type ig 12.3
28 ige responsiveness, atopic 12.3
29 amelogenesis imperfecta, type ig 12.3
30 usher syndrome, type ig 12.1
31 selective ige deficiency disease 12.0
32 immunodeficiency 35 12.0
33 amelogenesis imperfecta hypoplastic type, ig 12.0
34 acquired monoclonal ig light chain-associated fanconi syndrome 12.0
35 epilepsy, childhood absence 6 11.9
36 netherton syndrome 11.9
37 alg12-congenital disorder of glycosylation 11.8
38 megaloblastic anemia 1 11.8
39 generalized epilepsy with febrile seizures plus, type 3 11.7
40 generalized epilepsy with febrile seizures plus, type 7 11.7
41 immunodeficiency 23 11.7
42 immunodeficiency 11b with atopic dermatitis 11.7
43 generalized epilepsy with febrile seizures plus, type 2 11.6
44 iminoglycinuria 11.6
45 common variable immunodeficiency 11.6
46 immunodeficiency with hyper-igm, type 1 11.5
47 asthma 11.4
48 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 11.4
49 glut1 deficiency syndrome 1 11.4
50 jeavons syndrome 11.4

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



Diseases related to Epilepsy, Idiopathic Generalized

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
myoclonic seizures
generalized seizures, recurrent
eeg shows generalized, bilateral, synchronous, symmetrical discharge
more

Clinical features from OMIM:

600669

Human phenotypes related to Epilepsy, Idiopathic Generalized:

32
# Description HPO Frequency HPO Source Accession
1 generalized myoclonic seizures 32 HP:0002123
2 generalized tonic-clonic seizures 32 HP:0002069
3 absence seizures 32 HP:0002121
4 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849

UMLS symptoms related to Epilepsy, Idiopathic Generalized:


seizures, absence seizures, myoclonic seizures, non-epileptic convulsion

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 CACNA1H CACNB4 CLCN2 DDHD2 EFHC1 GABRA1
2 nervous system MP:0003631 9.77 CACNA1H CACNB4 CLCN2 DDHD2 EFHC1 GABRA1
3 reproductive system MP:0005389 9.23 CACNB4 CLCN2 GABRA1 GABRD GABRG2 KCNQ2

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized

Drugs for Epilepsy, Idiopathic Generalized (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Piracetam Approved, Investigational Phase 3 7491-74-9
2
Topiramate Approved Phase 3 97240-79-4 5284627
3
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
4
Lacosamide Approved Phase 3,Phase 2 175481-36-4, 860352-01-8 219078
5
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
6 Etiracetam Investigational Phase 3 33996-58-6
7 Anticonvulsants Phase 3,Phase 2
8 Nootropic Agents Phase 3
9 Protective Agents Phase 3,Not Applicable
10 Neuroprotective Agents Phase 3
11 Anti-Obesity Agents Phase 3
12 Pharmaceutical Solutions Phase 3
13 Antioxidants Phase 3
14 calcium channel blockers Phase 2
15 Calcium, Dietary Phase 2
16
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
17
Apomorphine Approved, Investigational Not Applicable 41372-20-7, 58-00-4 6005
18 Neuroserpin
19 Astragalus
20 Dopamine Agents Not Applicable
21 Sympathomimetics Not Applicable
22 Dopamine agonists Not Applicable
23 Autonomic Agents Not Applicable
24 Cardiotonic Agents Not Applicable
25 Gastrointestinal Agents Not Applicable
26 Emetics Not Applicable
27 Neurotransmitter Agents Not Applicable
28 Peripheral Nervous System Agents Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Study to Evaluate the Safety and Efficacy of Levetiracetam in Patients Suffering From Idiopathic Generalized Epilepsy With Primary Generalized Tonic-clonic Seizures Completed NCT00160550 Phase 3 Levetiracetam
2 Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + Adults Completed NCT00150774 Phase 3 Levetiracetam
3 Prospective Pilot Study on Metabolism and Weight Changes in Topiramate-Treated Epilepsy Patients Completed NCT00236886 Phase 3 topiramate
4 Effect of Brivaracetam (BRV) on Nonpsychotic Behavioral Side Effects in Subjects Treated Previously With Levetiracetam (LEV) Completed NCT01653262 Phase 3 Brivaracetam
5 A Study to Assess the Safety and Efficacy of Lacosamide Versus Placebo (a Pill Without Active Medication) in Patients With Idiopathic Generalised Epilepsy Who Are Already Taking Anti-epileptic Medications Recruiting NCT02408523 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
6 Randomized, Double-Blind Study to Evaluate Efficacy and Safety of Cenobamate Adjunctive Therapy in PGTC Seizures Recruiting NCT03678753 Phase 3 Cenobamate;Placebo
7 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
8 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
9 Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118949 Phase 2 Lacosamide
10 Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118962 Phase 2 Lacosamide
11 A Phase 2 Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Recruiting NCT03406702 Phase 2 CX-8998
12 Genetic Disease Gene Identification Unknown status NCT00916903
13 Blinking and Yawning in Epilepsy: The Role of Dopamine Completed NCT01432821 Not Applicable
14 Periodic Limb Movement and Genetic Generalized Epilepsy Completed NCT03587506
15 PET Study of the Nicotinic System in Epilepsy Completed NCT03268369 Not Applicable
16 Neocortical Epilepsies - Do They Progress? Completed NCT00610558 Not Applicable
17 Epilepsy Phenome/Genome Project Completed NCT00552045

Search NIH Clinical Center for Epilepsy, Idiopathic Generalized

Cochrane evidence based reviews: epilepsy, generalized

Genetic Tests for Epilepsy, Idiopathic Generalized

Genetic tests related to Epilepsy, Idiopathic Generalized:

# Genetic test Affiliating Genes
1 Idiopathic Generalized Epilepsy 29

Anatomical Context for Epilepsy, Idiopathic Generalized

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized:

41
Brain, Heart, Cortex, Lung, Skin, Kidney, T Cells

Publications for Epilepsy, Idiopathic Generalized

Articles related to Epilepsy, Idiopathic Generalized:

(show top 50) (show all 308)
# Title Authors Year
1
The electroclinical features of idiopathic generalized epilepsy patients presenting with fixation-off sensitivity. ( 30530446 )
2018
2
Generalized polyspike train: An EEG biomarker of drug-resistant idiopathic generalized epilepsy. ( 30530561 )
2018
3
Genetic (idiopathic) generalized epilepsy with occipital semiology. ( 30361187 )
2018
4
The cognitive phenotype of idiopathic generalized epilepsy. ( 30408705 )
2018
5
Generalized polyspike train: An EEG biomarker of drug-resistant idiopathic generalized epilepsy. ( 30315071 )
2018
6
Disrupted Coupling Between the Spontaneous Fluctuation and Functional Connectivity in Idiopathic Generalized Epilepsy. ( 30344508 )
2018
7
Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy. ( 30269157 )
2018
8
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. ( 30062784 )
2018
9
De novo late-onset absence status epilepticus or late-onset idiopathic generalized epilepsy? A case report and systematic review of the literature. ( 29620008 )
2018
10
Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types. ( 29729533 )
2018
11
Exceptional response to brivaracetam in a patient with refractory idiopathic generalized epilepsy and absence seizures. ( 29160210 )
2018
12
Impaired theory of mind in Chinese children and adolescents with idiopathic generalized epilepsy: Association with behavioral manifestations of executive dysfunction. ( 29309954 )
2018
13
The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs. ( 29894917 )
2018
14
Prognostic factors in patients with refractory idiopathic generalized epilepsy. ( 28157601 )
2017
15
Effects of Marijuana on Ictal and Interictal EEG Activities in Idiopathic Generalized Epilepsy. ( 27763968 )
2017
16
Functional Network Connectivity Patterns between Idiopathic Generalized Epilepsy with Myoclonic and Absence Seizures. ( 28588471 )
2017
17
Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy. ( 28829985 )
2017
18
Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic-clonic seizure. ( 27726245 )
2017
19
Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies. ( 28060866 )
2017
20
Complement system dysregulation in patients affected by Idiopathic Generalized Epilepsy and the effect of antiepileptic treatment. ( 28985614 )
2017
21
Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE). ( 28951233 )
2017
22
Effects of continuous theta burst transcranial magnetic stimulation on cortical excitability in patients with idiopathic generalized epilepsy. ( 29073474 )
2017
23
The Mechanism of Anti-Epileptogenesis by Levetiracetam Treatment is Similar to the Spontaneous Recovery of Idiopathic Generalized Epilepsy during Adolescence. ( 29209390 )
2017
24
Understanding the burden of idiopathic generalized epilepsy in the United States, Europe, and Brazil: An analysis from the National Health and Wellness Survey. ( 26773686 )
2016
25
Patterns of postictal cerebral perfusion in idiopathic generalized epilepsy: a multi-delay multi-parametric arterial spin labelling perfusion MRI study. ( 27374369 )
2016
26
Perampanel: Another Choice for Patients With Idiopathic Generalized Epilepsy Who Have Tonic-Clonic Seizures. ( 26900373 )
2016
27
Focal interictal epileptiform discharges in idiopathic generalized epilepsy. ( 26956566 )
2016
28
Moral judgment in patients with idiopathic generalized epilepsy. ( 27567267 )
2016
29
A diffusional kurtosis imaging study of idiopathic generalized epilepsy with unilateral interictal epileptiform discharges in children. ( 27269387 )
2016
30
Neocortical gamma oscillations in idiopathic generalized epilepsy. ( 26996827 )
2016
31
Perampanel for the treatment of primary generalized tonic-clonic seizures in idiopathic generalized epilepsy. ( 27267634 )
2016
32
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
33
Altered Effective Connectivity among Core Neurocognitive Networks in Idiopathic Generalized Epilepsy: An fMRI Evidence. ( 27656137 )
2016
34
Thalamic hypoperfusion and disrupted cerebral blood flow networks in idiopathic generalized epilepsy: Arterial spin labeling and graph theoretical analysis. ( 28043066 )
2016
35
Ethnic variation of genetic (idiopathic) generalized epilepsy in Malaysia. ( 27912112 )
2016
36
Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion-Semicurve findings in adult patients. ( 27344501 )
2016
37
Assessment of Time and Frequency Domain Parameters of Heart Rate Variability and Interictal Cardiac Rhythm Abnormalities in Drug-naA^ve Patients with Idiopathic Generalized Epilepsy. ( 27390676 )
2016
38
Cognitive Profile of Zonisamide and Valproic Acid in the Treatment of Idiopathic Generalized Epilepsy: A Comparative Observational Study. ( 27086007 )
2016
39
A computational biomarker of idiopathic generalized epilepsy from resting state EEG. ( 27501083 )
2016
40
Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy: A randomized trial. ( 26296511 )
2015
41
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 25740859 )
2015
42
No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. ( 26958022 )
2015
43
Identifying Corticothalamic Network Epicenters in Patients with Idiopathic Generalized Epilepsy. ( 25907518 )
2015
44
A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy. ( 26588588 )
2015
45
Determination of haptoglobin genotype in an Iranian population with idiopathic generalized epilepsy. ( 26989737 )
2015
46
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 26438619 )
2015
47
Investigation of the cingulate cortex in idiopathic generalized epilepsy. ( 26417846 )
2015
48
Altered functional connectivity among default, attention, and control networks in idiopathic generalized epilepsy. ( 25935514 )
2015
49
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent. ( 25893123 )
2015
50
Frequency-Specific Alterations of Local Synchronization in Idiopathic Generalized Epilepsy. ( 26266394 )
2015

Variations for Epilepsy, Idiopathic Generalized

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized:

6 (show top 50) (show all 1227)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1H NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh37 Chromosome 16, 1252303: 1252303
2 CACNA1H NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh38 Chromosome 16, 1202303: 1202303
3 CACNA1H NM_021098.2(CACNA1H): c.2626G> A (p.Ala876Thr) single nucleotide variant Benign rs58173258 GRCh37 Chromosome 16, 1256126: 1256126
4 CACNA1H NM_021098.2(CACNA1H): c.2626G> A (p.Ala876Thr) single nucleotide variant Benign rs58173258 GRCh38 Chromosome 16, 1206126: 1206126
5 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
6 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
7 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
8 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh38 Chromosome 9, 6589230: 6589230
9 ME2 ME2, HAPLOTYPE (rs674351, rs584087, rs585344, rs608781, rs642698, rs674210, rs645088, rs649224, rs654136) undetermined variant Uncertain significance
10 GABRD NM_000815.4(GABRD): c.659G> A (p.Arg220His) single nucleotide variant risk factor rs41307846 GRCh37 Chromosome 1, 1959699: 1959699
11 GABRD NM_000815.4(GABRD): c.659G> A (p.Arg220His) single nucleotide variant risk factor rs41307846 GRCh38 Chromosome 1, 2028260: 2028260
12 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh37 Chromosome 8, 38111160: 38111160
13 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh38 Chromosome 8, 38253642: 38253642
14 SCN1A NM_006920.4(SCN1A): c.1183G> C (p.Ala395Pro) single nucleotide variant not provided rs121917988 GRCh38 Chromosome 2, 166046964: 166046964
15 SCN1A NM_006920.4(SCN1A): c.1183G> C (p.Ala395Pro) single nucleotide variant not provided rs121917988 GRCh37 Chromosome 2, 166903474: 166903474
16 SCN1A NM_006920.4(SCN1A): c.1265T> A (p.Val422Glu) single nucleotide variant not provided rs121917989 GRCh37 Chromosome 2, 166903392: 166903392
17 SCN1A NM_006920.4(SCN1A): c.1265T> A (p.Val422Glu) single nucleotide variant not provided rs121917989 GRCh38 Chromosome 2, 166046882: 166046882
18 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh37 Chromosome 2, 166900346: 166900346
19 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh38 Chromosome 2, 166043836: 166043836
20 SCN1A NM_006920.4(SCN1A): c.2884A> G (p.Met962Val) single nucleotide variant not provided rs121917991 GRCh37 Chromosome 2, 166894315: 166894315
21 SCN1A NM_006920.4(SCN1A): c.2884A> G (p.Met962Val) single nucleotide variant not provided rs121917991 GRCh38 Chromosome 2, 166037805: 166037805
22 GABRA1 NM_000806.5(GABRA1): c.1323G> A (p.Thr441=) single nucleotide variant Benign rs138259457 GRCh37 Chromosome 5, 161324380: 161324380
23 GABRA1 NM_000806.5(GABRA1): c.1323G> A (p.Thr441=) single nucleotide variant Benign rs138259457 GRCh38 Chromosome 5, 161897374: 161897374
24 CACNA1H NM_021098.2(CACNA1H): c.1664C> T (p.Ala555Val) single nucleotide variant Benign rs9924241 GRCh37 Chromosome 16, 1252114: 1252114
25 CACNA1H NM_021098.2(CACNA1H): c.1664C> T (p.Ala555Val) single nucleotide variant Benign rs9924241 GRCh38 Chromosome 16, 1202114: 1202114
26 CACNA1H NM_021098.2(CACNA1H): c.1844C> T (p.Thr615Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368976749 GRCh37 Chromosome 16, 1252294: 1252294
27 CACNA1H NM_021098.2(CACNA1H): c.1844C> T (p.Thr615Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368976749 GRCh38 Chromosome 16, 1202294: 1202294
28 CACNA1H NM_021098.2(CACNA1H): c.2265C> T (p.Gly755=) single nucleotide variant Benign rs61073355 GRCh37 Chromosome 16, 1254272: 1254272
29 CACNA1H NM_021098.2(CACNA1H): c.2265C> T (p.Gly755=) single nucleotide variant Benign rs61073355 GRCh38 Chromosome 16, 1204272: 1204272
30 CACNA1H NM_021098.2(CACNA1H): c.3555G> A (p.Ala1185=) single nucleotide variant Conflicting interpretations of pathogenicity rs370039255 GRCh37 Chromosome 16, 1259223: 1259223
31 CACNA1H NM_021098.2(CACNA1H): c.3555G> A (p.Ala1185=) single nucleotide variant Conflicting interpretations of pathogenicity rs370039255 GRCh38 Chromosome 16, 1209223: 1209223
32 CACNA1H NM_021098.2(CACNA1H): c.4488G> A (p.Ser1496=) single nucleotide variant Conflicting interpretations of pathogenicity rs377112179 GRCh37 Chromosome 16, 1261727: 1261727
33 CACNA1H NM_021098.2(CACNA1H): c.4488G> A (p.Ser1496=) single nucleotide variant Conflicting interpretations of pathogenicity rs377112179 GRCh38 Chromosome 16, 1211727: 1211727
34 CACNA1H NM_021098.2(CACNA1H): c.4817C> T (p.Thr1606Met) single nucleotide variant Benign/Likely benign rs59286323 GRCh37 Chromosome 16, 1263819: 1263819
35 CACNA1H NM_021098.2(CACNA1H): c.4817C> T (p.Thr1606Met) single nucleotide variant Benign/Likely benign rs59286323 GRCh38 Chromosome 16, 1213819: 1213819
36 CACNA1H NM_021098.2(CACNA1H): c.6234C> T (p.Cys2078=) single nucleotide variant Benign rs59844753 GRCh37 Chromosome 16, 1270166: 1270166
37 CACNA1H NM_021098.2(CACNA1H): c.6234C> T (p.Cys2078=) single nucleotide variant Benign rs59844753 GRCh38 Chromosome 16, 1220166: 1220166
38 GABRA1 NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587777308 GRCh38 Chromosome 5, 161873196: 161873196
39 GABRA1 NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587777308 GRCh37 Chromosome 5, 161300202: 161300202
40 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh37 Chromosome 2, 152695896: 152695896
41 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh38 Chromosome 2, 151839382: 151839382
42 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh37 Chromosome 2, 152717331: 152717331
43 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh38 Chromosome 2, 151860817: 151860817
44 GABRA1 NM_000806.5(GABRA1): c.96A> G (p.Gln32=) single nucleotide variant Benign rs76224028 GRCh37 Chromosome 5, 161281185: 161281185
45 GABRA1 NM_000806.5(GABRA1): c.96A> G (p.Gln32=) single nucleotide variant Benign rs76224028 GRCh38 Chromosome 5, 161854179: 161854179
46 CACNB4 NM_000726.4(CACNB4): c.324C> T (p.Asp108=) single nucleotide variant Benign rs147647355 GRCh37 Chromosome 2, 152737380: 152737380
47 CACNB4 NM_000726.4(CACNB4): c.324C> T (p.Asp108=) single nucleotide variant Benign rs147647355 GRCh38 Chromosome 2, 151880866: 151880866
48 CACNB4 NM_000726.4(CACNB4): c.655A> G (p.Met219Val) single nucleotide variant Benign rs201870832 GRCh37 Chromosome 2, 152727089: 152727089
49 CACNB4 NM_000726.4(CACNB4): c.655A> G (p.Met219Val) single nucleotide variant Benign rs201870832 GRCh38 Chromosome 2, 151870575: 151870575
50 CACNB4 NM_000726.4(CACNB4): c.1413G> A (p.Arg471=) single nucleotide variant Benign/Likely benign rs1805029 GRCh37 Chromosome 2, 152695783: 152695783

Copy number variations for Epilepsy, Idiopathic Generalized from CNVD:

7 (show all 43)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 18225 1 144516731 146256137 Microdeletions idiopathic generalized epilepsy
2 89230 15 144643813 146297795 Microdeletions idiopathic generalized epilepsy
3 90145 15 20203685 20795813 Microdeletions idiopathic generalized epilepsy
4 90146 15 20203685 20795813 Microdeletions idiopathic generalized epilepsy
5 90148 15 20203685 20971169 Microdeletions idiopathic generalized epilepsy
6 90149 15 2020477 20629367 Microdeletions idiopathic generalized epilepsy
7 90150 15 2020477 20763914 Microdeletions idiopathic generalized epilepsy
8 90151 15 2020477 20795813 Microdeletions idiopathic generalized epilepsy
9 90152 15 2020477 20850488 Microdeletions idiopathic generalized epilepsy
10 90154 15 20224751 20799862 Microdeletions idiopathic generalized epilepsy
11 90155 15 20224751 20852202 Microdeletions idiopathic generalized epilepsy
12 90174 15 20301665 20795813 Microdeletions idiopathic generalized epilepsy
13 90183 15 20310606 20850488 Microdeletions idiopathic generalized epilepsy
14 90295 15 2110631 19781829 Microdeletions idiopathic generalized epilepsy
15 90296 15 2110631 20224751 Microdeletions idiopathic generalized epilepsy
16 90979 15 26745821 30494518 Microdeletions idiopathic generalized epilepsy
17 91113 15 28168397 30276525 Microdeletions idiopathic generalized epilepsy
18 91114 15 28168397 30491740 Microdeletions idiopathic generalized epilepsy
19 91115 15 28168397 30498257 Microdeletions idiopathic generalized epilepsy
20 91120 15 28171483 30701463 Microdeletions idiopathic generalized epilepsy
21 91193 15 28461375 30436131 Microdeletions idiopathic generalized epilepsy
22 91207 15 28595222 30326817 Microdeletions idiopathic generalized epilepsy
23 91208 15 28595222 30326817 Microdeletions idiopathic generalized epilepsy
24 91257 15 2873825 30215571 Microdeletions idiopathic generalized epilepsy
25 91313 15 29000000 31400000 Microdeletion idiopathic generalized epilepsy
26 91314 15 29000000 31400000 Microdeletion ARHGAP11B idiopathic generalized epilepsy
27 91320 15 29000000 31400000 Microdeletion CHRNA7 idiopathic generalized epilepsy
28 91323 15 29000000 31400000 Microdeletion KLF13 idiopathic generalized epilepsy
29 91326 15 29000000 31400000 Microdeletion MTMR10 idiopathic generalized epilepsy
30 91329 15 29000000 31400000 Microdeletion MTMR15 idiopathic generalized epilepsy
31 91332 15 29000000 31400000 Microdeletion OTUD7A idiopathic generalized epilepsy
32 91335 15 29000000 31400000 Microdeletion TRPM1 idiopathic generalized epilepsy
33 97901 16 14699106 16308654 Microdeletions idiopathic generalized epilepsy
34 97929 16 14742556 16285151 Microdeletions idiopathic generalized epilepsy
35 97930 16 14742556 16285151 Microdeletions idiopathic generalized epilepsy
36 97940 16 1478531 16308654 Microdeletions idiopathic generalized epilepsy
37 98024 16 14956201 16193208 Microdeletions idiopathic generalized epilepsy
38 98029 16 14961214 16285151 Microdeletions idiopathic generalized epilepsy
39 98092 16 15186307 18192575 Microdeletions idiopathic generalized epilepsy
40 98108 16 15386338 18291982 Microdeletions idiopathic generalized epilepsy
41 98278 16 167679 1478531 Microdeletions idiopathic generalized epilepsy
42 100033 16 29559251 30101408 Microdeletions idiopathic generalized epilepsy
43 161088 22 17258339 19786713 Microdeletions idiopathic generalized epilepsy

Expression for Epilepsy, Idiopathic Generalized

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

Pathways for Epilepsy, Idiopathic Generalized

GO Terms for Epilepsy, Idiopathic Generalized

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.91 CACNA1H CLCN2 GABRA1 GABRD GABRG2 KCNQ2
2 GABA-ergic synapse GO:0098982 9.5 GABRA1 GABRD GABRG2
3 axon initial segment GO:0043194 9.43 KCNQ2 KCNQ3 SCN1A
4 GABA-A receptor complex GO:1902711 9.33 GABRA1 GABRD GABRG2
5 node of Ranvier GO:0033268 9.13 KCNQ2 KCNQ3 SCN1A
6 chloride channel complex GO:0034707 8.92 CLCN2 GABRA1 GABRD GABRG2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 CACNA1H CLCN2 KCNQ2 KCNQ3 SCN1A
2 chemical synaptic transmission GO:0007268 9.73 CACNB4 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3
3 regulation of membrane potential GO:0042391 9.72 CACNA1H GABRA1 GABRD GABRG2 SCN1A
4 chloride transmembrane transport GO:1902476 9.71 CLCN2 GABRA1 GABRD GABRG2
5 chloride transport GO:0006821 9.67 CLCN2 GABRA1 GABRD GABRG2
6 nervous system process GO:0050877 9.63 GABRA1 GABRD GABRG2
7 regulation of ion transmembrane transport GO:0034765 9.63 CACNA1H CACNB4 CLCN2 KCNQ2 KCNQ3 SCN1A
8 regulation of postsynaptic membrane potential GO:0060078 9.61 GABRA1 GABRD GABRG2
9 neuronal action potential GO:0019228 9.55 CACNA1H SCN1A
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.54 GABRA1 GABRG2
11 membrane depolarization during action potential GO:0086010 9.52 CACNA1H SCN1A
12 ion transmembrane transport GO:0034220 9.5 CACNA1H CLCN2 GABRA1 GABRD GABRG2 KCNQ2
13 synaptic transmission, GABAergic GO:0051932 9.49 GABRA1 GABRG2
14 cellular response to histamine GO:0071420 9.48 GABRA1 GABRG2
15 ion transport GO:0006811 9.28 CACNA1H CACNB4 CLCN2 GABRA1 GABRD GABRG2

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.62 GABRA1 GABRD GABRG2 SCN1A
2 voltage-gated ion channel activity GO:0005244 9.56 CACNA1H KCNQ2 KCNQ3 SCN1A
3 extracellular ligand-gated ion channel activity GO:0005230 9.54 GABRA1 GABRD GABRG2
4 GABA-gated chloride ion channel activity GO:0022851 9.46 GABRA1 GABRG2
5 benzodiazepine receptor activity GO:0008503 9.43 GABRA1 GABRG2
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.4 GABRA1 GABRG2
7 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.33 GABRA1 GABRD GABRG2
8 GABA-A receptor activity GO:0004890 9.13 GABRA1 GABRD GABRG2
9 chloride channel activity GO:0005254 8.92 CLCN2 GABRA1 GABRD GABRG2

Sources for Epilepsy, Idiopathic Generalized

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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