MCID: IDP010
MIFTS: 58

Idiopathic Generalized Epilepsy

Categories: Neuronal diseases, Genetic diseases

Aliases & Classifications for Idiopathic Generalized Epilepsy

MalaCards integrated aliases for Idiopathic Generalized Epilepsy:

Name: Idiopathic Generalized Epilepsy 12 29 14 69
Epilepsy, Generalized 42 69
Epilepsy, Idiopathic Generalized 52
Generalised Epilepsy 12

Characteristics:

HPO:

32
idiopathic generalized epilepsy:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Idiopathic Generalized Epilepsy

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.

MalaCards based summary : Idiopathic Generalized Epilepsy, also known as epilepsy, generalized, is related to epilepsy, juvenile absence 1 and epilepsy, generalized, with febrile seizures plus, type 5, and has symptoms including absence seizures, generalized tonic-clonic seizures and generalized myoclonic seizures. An important gene associated with Idiopathic Generalized Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Sweet Taste Signaling and Transmission across Chemical Synapses. The drugs Piracetam and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 72 Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a... more...

Related Diseases for Idiopathic Generalized Epilepsy

Diseases in the Idiopathic Generalized Epilepsy family:

Epilepsy, Idiopathic Generalized 12 Epilepsy, Idiopathic Generalized 9
Epilepsy Idiopathic Generalized 8 Epilepsy, Idiopathic Generalized 11
Epilepsy, Idiopathic Generalized 3 Epilepsy, Idiopathic Generalized 5
Epilepsy, Idiopathic Generalized 2 Epilepsy, Idiopathic Generalized 7
Epilepsy, Idiopathic Generalized 14

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

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 epilepsy, juvenile absence 1 32.5 CACNB4 EFHC1
2 epilepsy, generalized, with febrile seizures plus, type 5 30.2 CACNB4 CHRNA4 CLCN2 EFHC1 GABRA1 GABRB3
3 epilepsy, generalized, with febrile seizures plus, type 2 12.0
4 epilepsy, generalized, with febrile seizures plus, type 3 12.0
5 epilepsy, childhood absence 6 11.6
6 epilepsy, idiopathic generalized 9 11.6
7 epilepsy, idiopathic generalized 11 11.6
8 childhood absence epilepsy 11.1
9 jeavons syndrome 11.1
10 epilepsy, juvenile myoclonic 5 11.1
11 myoclonic epilepsy, juvenile 1 11.0
12 epilepsy, idiopathic generalized 12 10.9
13 epilepsy idiopathic generalized 8 10.9
14 epilepsy 10.9
15 epilepsy, childhood absence 2 10.8
16 photoparoxysmal response 1 10.8
17 epilepsy, childhood absence 5 10.8
18 epileptic encephalopathy, childhood-onset 10.8
19 epilepsy, idiopathic generalized 14 10.8
20 generalized epilepsy with febrile seizures plus 10.8
21 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 10.7 GABRG2 SCN1A
22 brugada syndrome 5 10.7 SCN1A SCN1B
23 gamma-amino butyric acid metabolism disorder 10.7 CACNA1H CLCN2 EFHC1 GABRA1
24 epidermolysis bullosa simplex with muscular dystrophy 10.7 KCNQ2 KCNQ3
25 childhood malignant schwannoma 10.6 EFHC1 SCN1A
26 man1b1-cdg 10.6 SCN1A SLC12A5
27 histrionic personality disorder 10.5 GABRG2 KCNQ2 KCNQ3
28 childhood electroclinical syndrome 10.5 KCNQ2 KCNQ3 SCN1A
29 adolescence-adult electroclinical syndrome 10.5 GABRG2 KCNQ2 SCN1A SCN1B
30 autosomal dominant nonsyndromic deafness 10.5 GABRA1 GABRB3 KCNQ2 SCN1A
31 gingival overgrowth 10.4 CHRNA4 GABRG2 SCN1A SCN1B
32 suppurative cholangitis 10.4 KCNQ2 KCNQ3
33 headache 10.3 CHRNA4 GABRD GABRG2 SCN1A SCN1B
34 early onset absence epilepsy 10.3 CACNA1H EFHC1 GABRA1 GABRB3 GABRG2 KCNQ2
35 feingold trainer syndrome 10.3 POLG SCN1A
36 epileptic encephalopathy, early infantile, 15 10.2 GLDC KCNQ2 SCN1A
37 urethral stricture 10.1 CACNA1H CHRNA4 CLCN2 GABRA1 GABRB3 GABRG2
38 gingival disease 10.1 KCNQ2 KCNQ3
39 epilepsy with generalized tonic-clonic seizures 10.0
40 deafness, autosomal recessive 65 10.0 CHRNA4 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
41 microphthalmia, syndromic 2 10.0 GABRA1 LGI1
42 cerebritis 10.0
43 neuronitis 10.0
44 status epilepticus 9.9
45 temporal lobe epilepsy 9.9
46 myoclonus 9.9
47 3-methylcrotonyl-coa carboxylase deficiency 9.8 CACNB4 CLCN2 EFHC1 GABRA1 GABRB3 GABRD
48 gaba aminotransferase deficiency 9.8 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 ME2
49 active cochlear meniere's disease 9.8 GABRB3 LGI1
50 myoclonus epilepsy 9.8

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



Diseases related to Idiopathic Generalized Epilepsy

Symptoms & Phenotypes for Idiopathic Generalized Epilepsy

Human phenotypes related to Idiopathic Generalized Epilepsy:

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

UMLS symptoms related to Idiopathic Generalized Epilepsy:


seizures, non-epileptic convulsion

MGI Mouse Phenotypes related to Idiopathic Generalized Epilepsy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 CACNA1H CACNB4 CHRNA4 CLCN2 DDHD2 EFHC1
2 growth/size/body region MP:0005378 10.17 GLDC KCNJ10 KCNQ2 KCNQ3 LGI1 POLG
3 mortality/aging MP:0010768 10.03 CACNB4 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
4 nervous system MP:0003631 9.93 KCNQ3 LGI1 POLG SCN1A SCN1B SLC12A5
5 hearing/vestibular/ear MP:0005377 9.8 KCNJ10 POLG SLC12A5 CACNB4 GABRA1 GABRB3
6 reproductive system MP:0005389 9.32 CACNB4 CLCN2 GABRA1 GABRB3 GABRD GABRG2

Drugs & Therapeutics for Idiopathic Generalized Epilepsy

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

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Piracetam Approved Phase 3 7491-74-9
2
Topiramate Approved Phase 3 97240-79-4 5284627
3
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
4
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
5 Etiracetam Investigational Phase 3 33996-58-6
6 Anticonvulsants Phase 3,Phase 2
7 Neuroprotective Agents Phase 3
8 Nootropic Agents Phase 3
9 Protective Agents Phase 3
10 Anti-Obesity Agents Phase 3
11 Pharmaceutical Solutions Phase 3
12 Antioxidants Phase 3
13
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
14
Dopamine Approved 51-61-6, 62-31-7 681
15 Neuroserpin
16 Autonomic Agents
17 Dopamine Agents
18 Dopamine agonists
19 Emetics
20 Gastrointestinal Agents
21 Neurotransmitter Agents
22 Peripheral Nervous System Agents
23 Fluorodeoxyglucose F18
24 Radiopharmaceuticals
25 Astragalus Nutraceutical

Interventional clinical trials:

(show all 14)

id 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 Effect of Brivaracetam (BRV) on Nonpsychotic Behavioral Side Effects in Subjects Treated Previously With Levetiracetam (LEV) Completed NCT01653262 Phase 3 Brivaracetam
4 Prospective Pilot Study on Metabolism and Weight Changes in Topiramate-Treated Epilepsy Patients Completed NCT00236886 Phase 3 topiramate
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 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
7 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
8 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
9 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
10 Genetic Disease Gene Identification Unknown status NCT00916903
11 Epilepsy Phenome/Genome Project Unknown status NCT00552045
12 Blinking and Yawning in Epilepsy: The Role of Dopamine Completed NCT01432821
13 PET Study of the Nicotinic System in Epilepsy Completed NCT03268369
14 Neocortical Epilepsies - Do They Progress? Completed NCT00610558

Search NIH Clinical Center for Idiopathic Generalized Epilepsy

Cochrane evidence based reviews: epilepsy, generalized

Genetic Tests for Idiopathic Generalized Epilepsy

Genetic tests related to Idiopathic Generalized Epilepsy:

id Genetic test Affiliating Genes
1 Idiopathic Generalized Epilepsy 29

Anatomical Context for Idiopathic Generalized Epilepsy

MalaCards organs/tissues related to Idiopathic Generalized Epilepsy:

39
Brain, Cortex, Temporal Lobe, Thalamus, Heart, Occipital Lobe, Cingulate Cortex

Publications for Idiopathic Generalized Epilepsy

Articles related to Idiopathic Generalized Epilepsy:

(show top 50) (show all 310)
id Title Authors Year
1
Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies. ( 28060866 )
2017
2
Prognostic factors in patients with refractory idiopathic generalized epilepsy. ( 28157601 )
2017
3
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
4
Functional Network Connectivity Patterns between Idiopathic Generalized Epilepsy with Myoclonic and Absence Seizures. ( 28588471 )
2017
5
Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic-clonic seizure. ( 27726245 )
2017
6
Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy. ( 28829985 )
2017
7
Effects of Marijuana on Ictal and Interictal EEG Activities in Idiopathic Generalized Epilepsy. ( 27763968 )
2017
8
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
9
Cognitive Profile of Zonisamide and Valproic Acid in the Treatment of Idiopathic Generalized Epilepsy: A Comparative Observational Study. ( 27086007 )
2016
10
Neocortical gamma oscillations in idiopathic generalized epilepsy. ( 26996827 )
2016
11
A diffusional kurtosis imaging study of idiopathic generalized epilepsy with unilateral interictal epileptiform discharges in children. ( 27269387 )
2016
12
Perampanel: Another Choice for Patients With Idiopathic Generalized Epilepsy Who Have Tonic-Clonic Seizures. ( 26900373 )
2016
13
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
14
Patterns of postictal cerebral perfusion in idiopathic generalized epilepsy: a multi-delay multi-parametric arterial spin labelling perfusion MRI study. ( 27374369 )
2016
15
Perampanel for the treatment of primary generalized tonic-clonic seizures in idiopathic generalized epilepsy. ( 27267634 )
2016
16
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
17
Moral judgment in patients with idiopathic generalized epilepsy. ( 27567267 )
2016
18
Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion-Semicurve findings in adult patients. ( 27344501 )
2016
19
Thalamic hypoperfusion and disrupted cerebral blood flow networks in idiopathic generalized epilepsy: Arterial spin labeling and graph theoretical analysis. ( 28043066 )
2016
20
A computational biomarker of idiopathic generalized epilepsy from resting state EEG. ( 27501083 )
2016
21
Ethnic variation of genetic (idiopathic) generalized epilepsy in Malaysia. ( 27912112 )
2016
22
Focal interictal epileptiform discharges in idiopathic generalized epilepsy. ( 26956566 )
2016
23
Altered Effective Connectivity among Core Neurocognitive Networks in Idiopathic Generalized Epilepsy: An fMRI Evidence. ( 27656137 )
2016
24
Frequency-Specific Alterations of Local Synchronization in Idiopathic Generalized Epilepsy. ( 26266394 )
2015
25
Determination of haptoglobin genotype in an Iranian population with idiopathic generalized epilepsy. ( 26989737 )
2015
26
No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. ( 26958022 )
2015
27
A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy. ( 26588588 )
2015
28
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 25740859 )
2015
29
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent. ( 25893123 )
2015
30
Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy: A randomized trial. ( 26296511 )
2015
31
Identifying Corticothalamic Network Epicenters in Patients with Idiopathic Generalized Epilepsy. ( 25907518 )
2015
32
Selective EEG activation by the Stroop test in idiopathic generalized epilepsy. ( 25735886 )
2015
33
Investigation of the cingulate cortex in idiopathic generalized epilepsy. ( 26417846 )
2015
34
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 26438619 )
2015
35
Altered functional connectivity among default, attention, and control networks in idiopathic generalized epilepsy. ( 25935514 )
2015
36
Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases. ( 26156948 )
2015
37
Choice of Antiepileptic Drugs in Idiopathic Generalized Epilepsy: UAE Experience. ( 26078878 )
2015
38
Increased interhemispheric resting-state in idiopathic generalized epilepsy with generalized tonic-clonic seizures: a resting-state fMRI study. ( 25043752 )
2014
39
Microstructural brain abnormalities of children of idiopathic generalized epilepsy with generalized tonic-clonic seizure: A voxel-based diffusional kurtosis imaging study. ( 24797060 )
2014
40
Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: an epilepsy endophenotype. ( 24702672 )
2014
41
Idiopathic-generalized epilepsy shows profound white matter diffusion-tensor imaging alterations. ( 25050427 )
2014
42
Altered thalamocortical functional connectivity in idiopathic generalized epilepsy. ( 24650142 )
2014
43
Focal abnormalities in idiopathic generalized epilepsy: a critical review of the literature. ( 24938654 )
2014
44
Diffusional kurtosis imaging reveals a distinctive pattern of microstructural alternations in idiopathic generalized epilepsy. ( 24796428 )
2014
45
Genetic variants of synaptic vesicle and presynaptic plasma membrane proteins in idiopathic generalized epilepsy. ( 24164654 )
2014
46
Recognition of facial emotions and identity in patients with mesial temporal lobe and idiopathic generalized epilepsy: An eye-tracking study. ( 25277844 )
2014
47
Functional neuroimaging abnormalities in idiopathic generalized epilepsy. ( 25383319 )
2014
48
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. ( 24561070 )
2014
49
Natural course and predictors of spontaneous seizure remission in idiopathic generalized epilepsy: 7-27 years of follow-up. ( 24907182 )
2014
50
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. ( 24928908 )
2014

Variations for Idiopathic Generalized Epilepsy

ClinVar genetic disease variations for Idiopathic Generalized Epilepsy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
2 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh37 Chromosome 8, 38111160: 38111160
3 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh37 Chromosome 2, 166900346: 166900346
4 POLG NM_002693.2(POLG): c.1270_1271delCT (p.Leu424Glyfs) deletion Pathogenic rs796052908 GRCh37 Chromosome 15, 89870560: 89870561

Copy number variations for Idiopathic Generalized Epilepsy from CNVD:

7 (show all 43)
id 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 Idiopathic Generalized Epilepsy

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

Pathways for Idiopathic Generalized Epilepsy

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

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 CACNA1H CACNB4 GABRA1 GABRB3 GABRD GABRG2
2
Show member pathways
12.71 CACNB4 CHRNA4 GABRA1 GABRB3 GABRG2 KCNJ10
3
Show member pathways
12.58 CACNA1H CHRNA4 KCNQ2 KCNQ3 SCN1A
4 12.38 KCNQ2 SCN1A SCN1B SLC12A5
5
Show member pathways
12.37 GABRA1 GABRB3 GABRD GABRG2 SLC12A5
6
Show member pathways
12.35 CLCN2 GABRA1 GABRB3 GABRG2
7
Show member pathways
12.26 GABRA1 GABRB3 GABRD GABRG2
8 12.18 CACNB4 KCNJ10 KCNQ2 KCNQ3
9
Show member pathways
11.84 GABRA1 GABRB3 GABRG2 KCNJ10
10
Show member pathways
11.77 KCNQ2 KCNQ3 SCN1A SCN1B
11
Show member pathways
11.55 CACNB4 SCN1A SCN1B
12 11.39 CACNA1H CACNB4 KCNQ2 KCNQ3
13
Show member pathways
11.23 GABRA1 GABRB3 GABRG2
14 10.93 KCNQ2 KCNQ3 SCN1A SCN1B
15
Show member pathways
10.8 GABRA1 GABRG2
16 10.62 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
17 10.49 GABRA1 GABRB3 GABRD GABRG2

GO Terms for Idiopathic Generalized Epilepsy

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.95 CHRNA4 GABRA1 GABRB3 GABRD GABRG2 LGI1
2 integral component of plasma membrane GO:0005887 9.91 GABRA1 GABRB3 GABRD GABRG2 KCNJ10 SLC12A5
3 synapse GO:0045202 9.88 CHRNA4 GABRA1 GABRB3 GABRD GABRG2 LGI1
4 postsynaptic membrane GO:0045211 9.77 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
5 voltage-gated sodium channel complex GO:0001518 9.49 SCN1A SCN1B
6 sodium channel complex GO:0034706 9.46 SCN1A SCN1B
7 GABA-A receptor complex GO:1902711 9.46 GABRA1 GABRB3 GABRD GABRG2
8 axon initial segment GO:0043194 9.43 KCNQ2 KCNQ3 SCN1A
9 node of Ranvier GO:0033268 9.26 KCNQ2 KCNQ3 SCN1A SCN1B
10 chloride channel complex GO:0034707 9.02 CLCN2 GABRA1 GABRB3 GABRD GABRG2
11 integral component of membrane GO:0016021 10.32 CACNA1H CHRNA4 CLCN2 GABRA1 GABRB3 GABRD
12 plasma membrane GO:0005886 10.2 CACNA1H CACNB4 CHRNA4 CLCN2 GABRA1 GABRB3

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 9.88 CLCN2 GABRA1 GABRB3 GABRD GABRG2 SLC12A5
2 chemical synaptic transmission GO:0007268 9.86 CACNB4 CHRNA4 GABRD GABRG2 KCNQ2 KCNQ3
3 chloride transport GO:0006821 9.85 CLCN2 GABRA1 GABRB3 GABRD GABRG2 SLC12A5
4 potassium ion transmembrane transport GO:0071805 9.84 KCNJ10 KCNQ2 KCNQ3 SLC12A5
5 potassium ion transport GO:0006813 9.83 KCNJ10 KCNQ2 KCNQ3 SLC12A5
6 regulation of postsynaptic membrane potential GO:0060078 9.83 CACNA1H CHRNA4 GABRA1 SCN1A SCN1B
7 regulation of membrane potential GO:0042391 9.78 CACNA1H CHRNA4 KCNJ10 SCN1A
8 sodium ion transmembrane transport GO:0035725 9.76 CACNA1H SCN1A SCN1B
9 regulation of ion transmembrane transport GO:0034765 9.76 CACNA1H CACNB4 CLCN2 KCNJ10 KCNQ2 KCNQ3
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.69 GABRA1 GABRB3 GABRG2
11 membrane depolarization GO:0051899 9.67 CACNB4 CHRNA4 SCN1B
12 cellular response to histamine GO:0071420 9.63 GABRA1 GABRB3 GABRG2
13 ion transmembrane transport GO:0034220 9.61 CACNA1H CHRNA4 CLCN2 GABRA1 GABRB3 GABRD
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.59 SCN1A SCN1B
15 inhibitory postsynaptic potential GO:0060080 9.58 CHRNA4 GABRB3
16 neuronal action potential propagation GO:0019227 9.57 SCN1A SCN1B
17 synaptic transmission, GABAergic GO:0051932 9.56 GABRA1 GABRG2
18 ion transport GO:0006811 9.47 CACNA1H CACNB4 CHRNA4 CLCN2 GABRA1 GABRB3
19 transport GO:0006810 10.17 CACNA1H CACNB4 CHRNA4 CLCN2 GABRA1 GABRB3
20 transmembrane transport GO:0055085 10.02 CACNA1H CLCN2 KCNQ2 KCNQ3 SCN1A SLC12A5

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.72 CLCN2 GABRA1 GABRB3 GABRD GABRG2
2 potassium channel activity GO:0005267 9.61 KCNJ10 KCNQ2 KCNQ3
3 GABA-A receptor activity GO:0004890 9.56 GABRA1 GABRB3 GABRD GABRG2
4 voltage-gated sodium channel activity GO:0005248 9.54 CACNA1H SCN1A SCN1B
5 ion channel activity GO:0005216 9.46 CHRNA4 GABRA1 GABRB3 SCN1A
6 GABA-gated chloride ion channel activity GO:0022851 9.4 GABRA1 GABRB3
7 extracellular ligand-gated ion channel activity GO:0005230 9.35 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
8 voltage-gated ion channel activity GO:0005244 9.17 CACNA1H CLCN2 KCNJ10 KCNQ2 KCNQ3 SCN1A

Sources for Idiopathic Generalized Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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