MCID: EPL140
MIFTS: 57

Epilepsy, Idiopathic Generalized

Categories: Neuronal diseases, Genetic 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:



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 epilepsy, and has symptoms including seizures, non-epileptic convulsion and absence 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 L1CAM interactions and Celecoxib Pathway, Pharmacodynamics. The drugs Topiramate and Piracetam have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are generalized tonic-clonic seizures and absence 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 67)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 10 34.1 CACNB4 CLCN2 EFHC1 GABRD GABRG2 KCNQ3
2 epilepsy 30.2 CACNA1H CACNB4 EFHC1 GABRD GABRG2 KCNQ2
3 hyper-ige recurrent infection syndrome, autosomal dominant 12.5
4 epilepsy, idiopathic generalized 8 12.4
5 epilepsy, idiopathic generalized 9 12.4
6 epilepsy, idiopathic generalized 12 12.4
7 epilepsy, idiopathic generalized 11 12.4
8 epilepsy, idiopathic generalized 14 12.4
9 epilepsy, idiopathic generalized 13 12.4
10 hyper ige syndrome 12.3
11 hyper-ige recurrent infection syndrome, autosomal recessive 12.3
12 epilepsy, idiopathic generalized 4 12.2
13 epilepsy, idiopathic generalized 2 12.2
14 epilepsy, idiopathic generalized 3 12.2
15 epilepsy, idiopathic generalized 5 12.2
16 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.2
17 epilepsy, idiopathic generalized 7 12.2
18 congenital disorder of glycosylation, type ig 12.2
19 ige responsiveness, atopic 12.2
20 amelogenesis imperfecta, type ig 12.1
21 usher syndrome, type ig 11.9
22 selective ige deficiency disease 11.9
23 immunodeficiency 35 11.8
24 amelogenesis imperfecta hypoplastic type, ig 11.8
25 acquired monoclonal ig light chain-associated fanconi syndrome 11.8
26 epilepsy, childhood absence 6 11.8
27 netherton syndrome 11.8
28 alg12-congenital disorder of glycosylation 11.6
29 megaloblastic anemia 1 11.6
30 generalized epilepsy with febrile seizures plus, type 3 11.6
31 generalized epilepsy with febrile seizures plus, type 7 11.6
32 immunodeficiency 23 11.5
33 immunodeficiency 11b with atopic dermatitis 11.5
34 generalized epilepsy with febrile seizures plus, type 2 11.5
35 iminoglycinuria 11.4
36 common variable immunodeficiency 11.4
37 immunodeficiency with hyper-igm, type 1 11.3
38 asthma 11.3
39 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 11.3
40 agammaglobulinemia, x-linked 11.2
41 immunodeficiency with hyper-igm, type 4 11.2
42 allergic asthma 11.2
43 dermatitis, atopic, 2 11.1
44 febrile infection-related epilepsy syndrome 11.0 POLG SCN1A
45 myoclonic epilepsy of infancy 10.9 GABRG2 SCN1A
46 juvenile absence epilepsy 10.9 CACNA1H CLCN2 EFHC1
47 myoclonic astatic epilepsy 10.9 SCN1A SLC2A1
48 epilepsy, myoclonic juvenile 10.9 CACNB4 EFHC1
49 lennox-gastaut syndrome 10.8 KCNQ2 SCN1A SLC2A1
50 infancy electroclinical syndrome 10.8 GABRG2 KCNQ2 SCN1A

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 tonic-clonic seizures 32 HP:0002069
2 absence seizures 32 HP:0002121
3 generalized myoclonic seizures 32 HP:0002123
4 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849

UMLS symptoms related to Epilepsy, Idiopathic Generalized:


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

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 SCN1A SLC2A1 CACNA1H CACNB4 CLCN2 DDHD2
2 nervous system MP:0003631 9.44 CACNA1H CACNB4 CLCN2 DDHD2 EFHC1 GABRD

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 3 97240-79-4 5284627
2 Piracetam Approved, Investigational Phase 3 7491-74-9
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 Neuroprotective Agents Phase 3
7 Nootropic Agents Phase 3
8 Anticonvulsants Phase 3,Phase 2
9 Anti-Obesity Agents Phase 3
10 Protective Agents Phase 3,Not Applicable
11 Pharmaceutical Solutions Phase 3
12 Antioxidants Phase 3
13
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
14
Apomorphine Approved, Investigational Not Applicable 41372-20-7, 58-00-4 6005
15 Neuroserpin
16 Dopamine agonists Not Applicable
17 Gastrointestinal Agents Not Applicable
18 Neurotransmitter Agents Not Applicable
19 Dopamine Agents Not Applicable
20 Emetics Not Applicable
21 Peripheral Nervous System Agents Not Applicable
22 Autonomic Agents Not Applicable
23 Astragalus Nutraceutical

Interventional clinical trials:

(show all 14)
# 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 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 Not Applicable
13 PET Study of the Nicotinic System in Epilepsy Completed NCT03268369 Not Applicable
14 Neocortical Epilepsies - Do They Progress? Completed NCT00610558 Not Applicable

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 ME2

Anatomical Context for Epilepsy, Idiopathic Generalized

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized:

41
Brain, Cortex, Temporal Lobe, Thalamus, Cingulate Cortex, Occipital Lobe, Heart

Publications for Epilepsy, Idiopathic Generalized

Articles related to Epilepsy, Idiopathic Generalized:

(show top 50) (show all 316)
# Title Authors Year
1
Prognostic factors in patients with refractory idiopathic generalized epilepsy. ( 28157601 )
2017
2
Effects of Marijuana on Ictal and Interictal EEG Activities in Idiopathic Generalized Epilepsy. ( 27763968 )
2017
3
Functional Network Connectivity Patterns between Idiopathic Generalized Epilepsy with Myoclonic and Absence Seizures. ( 28588471 )
2017
4
Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy. ( 28829985 )
2017
5
Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic-clonic seizure. ( 27726245 )
2017
6
Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies. ( 28060866 )
2017
7
Complement system dysregulation in patients affected by Idiopathic Generalized Epilepsy and the effect of antiepileptic treatment. ( 28985614 )
2017
8
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
9
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
10
Patterns of postictal cerebral perfusion in idiopathic generalized epilepsy: a multi-delay multi-parametric arterial spin labelling perfusion MRI study. ( 27374369 )
2016
11
Perampanel: Another Choice for Patients With Idiopathic Generalized Epilepsy Who Have Tonic-Clonic Seizures. ( 26900373 )
2016
12
Focal interictal epileptiform discharges in idiopathic generalized epilepsy. ( 26956566 )
2016
13
Moral judgment in patients with idiopathic generalized epilepsy. ( 27567267 )
2016
14
A diffusional kurtosis imaging study of idiopathic generalized epilepsy with unilateral interictal epileptiform discharges in children. ( 27269387 )
2016
15
Neocortical gamma oscillations in idiopathic generalized epilepsy. ( 26996827 )
2016
16
Perampanel for the treatment of primary generalized tonic-clonic seizures in idiopathic generalized epilepsy. ( 27267634 )
2016
17
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
18
Altered Effective Connectivity among Core Neurocognitive Networks in Idiopathic Generalized Epilepsy: An fMRI Evidence. ( 27656137 )
2016
19
Thalamic hypoperfusion and disrupted cerebral blood flow networks in idiopathic generalized epilepsy: Arterial spin labeling and graph theoretical analysis. ( 28043066 )
2016
20
Ethnic variation of genetic (idiopathic) generalized epilepsy in Malaysia. ( 27912112 )
2016
21
Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion-Semicurve findings in adult patients. ( 27344501 )
2016
22
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
23
A computational biomarker of idiopathic generalized epilepsy from resting state EEG. ( 27501083 )
2016
24
Cognitive Profile of Zonisamide and Valproic Acid in the Treatment of Idiopathic Generalized Epilepsy: A Comparative Observational Study. ( 27086007 )
2016
25
Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy: A randomized trial. ( 26296511 )
2015
26
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 25740859 )
2015
27
No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. ( 26958022 )
2015
28
Identifying Corticothalamic Network Epicenters in Patients with Idiopathic Generalized Epilepsy. ( 25907518 )
2015
29
A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy. ( 26588588 )
2015
30
Determination of haptoglobin genotype in an Iranian population with idiopathic generalized epilepsy. ( 26989737 )
2015
31
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 26438619 )
2015
32
Investigation of the cingulate cortex in idiopathic generalized epilepsy. ( 26417846 )
2015
33
Altered functional connectivity among default, attention, and control networks in idiopathic generalized epilepsy. ( 25935514 )
2015
34
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent. ( 25893123 )
2015
35
Frequency-Specific Alterations of Local Synchronization in Idiopathic Generalized Epilepsy. ( 26266394 )
2015
36
Selective EEG activation by the Stroop test in idiopathic generalized epilepsy. ( 25735886 )
2015
37
Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases. ( 26156948 )
2015
38
Choice of Antiepileptic Drugs in Idiopathic Generalized Epilepsy: UAE Experience. ( 26078878 )
2015
39
Functional neuroimaging abnormalities in idiopathic generalized epilepsy. ( 25383319 )
2014
40
Valproate treatment normalizes EEG functional connectivity in successfully treated idiopathic generalized epilepsy patients. ( 25454501 )
2014
41
Frequency-dependent amplitude alterations of resting-state spontaneous fluctuations in idiopathic generalized epilepsy. ( 24721198 )
2014
42
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. ( 24928908 )
2014
43
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature. ( 25420625 )
2014
44
Focal abnormalities in idiopathic generalized epilepsy: a critical review of the literature. ( 24938654 )
2014
45
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. ( 24561070 )
2014
46
Retraction: microstructural brain abnormalities of children of idiopathic generalized epilepsy with generalized tonic-clonic seizure: a voxel-based diffusional kurtosis imaging study by: Junling Gao, Shi-Ting Feng, Bangxian Wu, Nanjie Gong, Minhua Lu, Po-Man Wu, He Wang, Xiaoming He, and Bingsheng Huang. ( 25275140 )
2014
47
Diffusional kurtosis imaging reveals a distinctive pattern of microstructural alternations in idiopathic generalized epilepsy. ( 24796428 )
2014
48
Natural course and predictors of spontaneous seizure remission in idiopathic generalized epilepsy: 7-27 years of follow-up. ( 24907182 )
2014
49
EEG activation by neuropsychological tasks in idiopathic generalized epilepsy of adolescence. ( 25043766 )
2014
50
Microstructural brain abnormalities of children of idiopathic generalized epilepsy with generalized tonic-clonic seizure: A voxel-based diffusional kurtosis imaging study. ( 24797060 )
2014

Variations for Epilepsy, Idiopathic Generalized

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized:

6
(show top 50) (show all 929)
# 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 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
4 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
5 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
6 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh38 Chromosome 9, 6589230: 6589230
7 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh37 Chromosome 8, 38111160: 38111160
8 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh38 Chromosome 8, 38253642: 38253642
9 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh37 Chromosome 2, 166900346: 166900346
10 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh38 Chromosome 2, 166043836: 166043836
11 CACNA1H NM_021098.2(CACNA1H): c.5897C> T (p.Ala1966Val) single nucleotide variant Benign rs72552054 GRCh37 Chromosome 16, 1268979: 1268979
12 CACNA1H NM_021098.2(CACNA1H): c.5897C> T (p.Ala1966Val) single nucleotide variant Benign rs72552054 GRCh38 Chromosome 16, 1218979: 1218979
13 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
14 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
15 GABRA1 NM_000806.5(GABRA1): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs143815396 GRCh37 Chromosome 5, 161281174: 161281174
16 GABRA1 NM_000806.5(GABRA1): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs143815396 GRCh38 Chromosome 5, 161854168: 161854168
17 CACNB4 NM_000726.4(CACNB4): c.1355G> A (p.Arg452Lys) single nucleotide variant Uncertain significance rs762394421 GRCh37 Chromosome 2, 152695841: 152695841
18 CACNB4 NM_000726.4(CACNB4): c.1355G> A (p.Arg452Lys) single nucleotide variant Uncertain significance rs762394421 GRCh38 Chromosome 2, 151839327: 151839327
19 CACNB4 NM_000726.4(CACNB4): c.792T> C (p.Ser264=) single nucleotide variant Benign rs139448267 GRCh37 Chromosome 2, 152717301: 152717301
20 CACNB4 NM_000726.4(CACNB4): c.792T> C (p.Ser264=) single nucleotide variant Benign rs139448267 GRCh38 Chromosome 2, 151860787: 151860787
21 CACNB4 NM_000726.4(CACNB4): c.45G> A (p.Pro15=) single nucleotide variant Benign/Likely benign rs536646578 GRCh37 Chromosome 2, 152955481: 152955481
22 CACNB4 NM_000726.4(CACNB4): c.45G> A (p.Pro15=) single nucleotide variant Benign/Likely benign rs536646578 GRCh38 Chromosome 2, 152098967: 152098967
23 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
24 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
25 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh37 Chromosome 2, 152955518: 152955518
26 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh38 Chromosome 2, 152099004: 152099004
27 GABRA1 NM_000806.5(GABRA1): c.831G> A (p.Glu277=) single nucleotide variant Benign rs764666718 GRCh38 Chromosome 5, 161891025: 161891025
28 GABRA1 NM_000806.5(GABRA1): c.831G> A (p.Glu277=) single nucleotide variant Benign rs764666718 GRCh37 Chromosome 5, 161318031: 161318031
29 POLG NM_002693.2(POLG): c.1270_1271delCT (p.Leu424Glyfs) deletion Pathogenic rs796052908 GRCh38 Chromosome 15, 89327329: 89327330
30 POLG NM_002693.2(POLG): c.1270_1271delCT (p.Leu424Glyfs) deletion Pathogenic rs796052908 GRCh37 Chromosome 15, 89870560: 89870561
31 LOC101927358; MIR6130; RORB; RORB-AS1 9q21.13 deletion deletion Likely pathogenic
32 CACNA1H NM_021098.2(CACNA1H): c.3206G> A (p.Arg1069Gln) single nucleotide variant Benign/Likely benign rs57633676 GRCh37 Chromosome 16, 1258064: 1258064
33 CACNA1H NM_021098.2(CACNA1H): c.3206G> A (p.Arg1069Gln) single nucleotide variant Benign/Likely benign rs57633676 GRCh38 Chromosome 16, 1208064: 1208064
34 RBFOX1 NM_145891.2(RBFOX1): c.190C> T (p.Pro64Ser) single nucleotide variant Uncertain significance rs201490398 GRCh37 Chromosome 16, 7568251: 7568251
35 RBFOX1 NM_145891.2(RBFOX1): c.190C> T (p.Pro64Ser) single nucleotide variant Uncertain significance rs201490398 GRCh38 Chromosome 16, 7518249: 7518249
36 RBFOX1 NM_145891.2(RBFOX1): c.259C> T (p.Pro87Ser) single nucleotide variant Uncertain significance rs143573994 GRCh37 Chromosome 16, 7568320: 7568320
37 RBFOX1 NM_145891.2(RBFOX1): c.259C> T (p.Pro87Ser) single nucleotide variant Uncertain significance rs143573994 GRCh38 Chromosome 16, 7518318: 7518318
38 RBFOX1 NM_145891.2(RBFOX1): c.342C> T (p.Asp114=) single nucleotide variant Benign rs145861898 GRCh37 Chromosome 16, 7629790: 7629790
39 RBFOX1 NM_145891.2(RBFOX1): c.342C> T (p.Asp114=) single nucleotide variant Benign rs145861898 GRCh38 Chromosome 16, 7579788: 7579788
40 RBFOX1 NM_145891.2(RBFOX1): c.807T> C (p.Tyr269=) single nucleotide variant Likely benign rs779034823 GRCh37 Chromosome 16, 7680675: 7680675
41 RBFOX1 NM_145891.2(RBFOX1): c.807T> C (p.Tyr269=) single nucleotide variant Likely benign rs779034823 GRCh38 Chromosome 16, 7630673: 7630673
42 RBFOX1 NM_145891.2(RBFOX1): c.1134+3G> A single nucleotide variant Benign rs79369633 GRCh37 Chromosome 16, 7759136: 7759136
43 RBFOX1 NM_145891.2(RBFOX1): c.1134+3G> A single nucleotide variant Benign rs79369633 GRCh38 Chromosome 16, 7709134: 7709134
44 RBFOX3 NM_001082575.2(RBFOX3): c.415-4A> G single nucleotide variant Likely benign rs878854169 GRCh37 Chromosome 17, 77099340: 77099340
45 RBFOX3 NM_001082575.2(RBFOX3): c.415-4A> G single nucleotide variant Likely benign rs878854169 GRCh38 Chromosome 17, 79103258: 79103258
46 RBFOX3 NM_001082575.2(RBFOX3): c.415-9T> C single nucleotide variant Likely benign rs878854170 GRCh38 Chromosome 17, 79103263: 79103263
47 RBFOX3 NM_001082575.2(RBFOX3): c.415-9T> C single nucleotide variant Likely benign rs878854170 GRCh37 Chromosome 17, 77099345: 77099345
48 RBFOX3 NM_001082575.2(RBFOX3): c.321C> T (p.Pro107=) single nucleotide variant Benign rs150282906 GRCh37 Chromosome 17, 77102772: 77102772
49 RBFOX3 NM_001082575.2(RBFOX3): c.321C> T (p.Pro107=) single nucleotide variant Benign rs150282906 GRCh38 Chromosome 17, 79106690: 79106690
50 RBFOX3 NM_001082575.2(RBFOX3): c.68C> T (p.Ala23Val) single nucleotide variant Uncertain significance rs878854171 GRCh37 Chromosome 17, 77111730: 77111730

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 KCNQ2 KCNQ3 SCN1A
2 10.69 CACNA1H CACNB4 KCNQ2 KCNQ3
3 10.61 KCNQ2 KCNQ3 SCN1A
4 10.39 GABRD GABRG2

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 9.8 CACNA1H CLCN2 GABRD GABRG2 KCNQ2 KCNQ3
2 chloride channel complex GO:0034707 9.33 CLCN2 GABRD GABRG2
3 GABA-A receptor complex GO:1902711 9.32 GABRD GABRG2
4 node of Ranvier GO:0033268 9.13 KCNQ2 KCNQ3 SCN1A
5 axon initial segment GO:0043194 8.8 KCNQ2 KCNQ3 SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 CACNA1H CLCN2 KCNQ2 KCNQ3 SCN1A SLC2A1
2 chemical synaptic transmission GO:0007268 9.65 CACNB4 GABRD GABRG2 KCNQ2 KCNQ3
3 ion transmembrane transport GO:0034220 9.63 CACNA1H CLCN2 GABRD GABRG2 KCNQ2 SCN1A
4 regulation of membrane potential GO:0042391 9.62 CACNA1H GABRD GABRG2 SCN1A
5 chloride transmembrane transport GO:1902476 9.61 CLCN2 GABRD GABRG2
6 chloride transport GO:0006821 9.58 CLCN2 GABRD GABRG2
7 ion transport GO:0006811 9.56 CACNA1H CACNB4 CLCN2 GABRD GABRG2 KCNQ2
8 regulation of ion transmembrane transport GO:0034765 9.1 CACNA1H CACNB4 CLCN2 KCNQ2 KCNQ3 SCN1A

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 9.5 GABRD GABRG2 SCN1A
2 voltage-gated sodium channel activity GO:0005248 9.26 CACNA1H SCN1A
3 GABA-A receptor activity GO:0004890 9.16 GABRD GABRG2
4 chloride channel activity GO:0005254 9.13 CLCN2 GABRD GABRG2
5 voltage-gated ion channel activity GO:0005244 8.92 CACNA1H KCNQ2 KCNQ3 SCN1A

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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