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 58 56
Idiopathic Generalized Epilepsy 58 12 30 6 15 74
Epilepsy, Idiopathic Generalized, Susceptibility to, 1 58 13
Epilepsy, Generalized 45 74
Generalised Epilepsy 12 17
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 1 41
Epilepsy, Idiopathic Generalized, Susceptibility to 6
Idiopathic Generalized Epilepsy; Ige 58
Epilepsy, Idiopathic Generalized 1 58
Epilepsy, Idiopathic, Generalized 41
Eig 58
Ige 58

Characteristics:

OMIM:

58
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:

33
epilepsy, idiopathic generalized:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1827
OMIM 58 600669
MeSH 45 D004829
NCIt 51 C3021
SNOMED-CT 69 19598007
MedGen 43 C0270850

Summaries for Epilepsy, Idiopathic Generalized

OMIM : 58 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 non-epileptic convulsion. An important gene associated with Epilepsy, Idiopathic Generalized is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. The drugs Levetiracetam and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, 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 : 77 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
Epilepsy, Idiopathic Generalized 15

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

(show top 50) (show all 726)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 10 33.9 CACNB4 CHRNA4 EFHC1 GABRA1 GABRD GABRG2
2 childhood absence epilepsy 32.4 CACNA1H CHRNA4 EFHC1 GABRA1 GABRG2 ME2
3 epilepsy, myoclonic juvenile 32.3 CACNB4 EFHC1
4 generalized epilepsy with febrile seizures plus 31.9 GABRD GABRG2 KCNQ2 KCNQ3 ME2 SCN1A
5 benign familial neonatal epilepsy 30.5 KCNQ2 KCNQ3
6 febrile seizures 30.4 CHRNA4 GABRD GABRG2 KCNQ2 SCN1A
7 epilepsy with generalized tonic-clonic seizures 30.3 CACNA1H EFHC1 SCN1A
8 myoclonic epilepsy of infancy 30.3 GABRG2 SCN1A
9 focal epilepsy 30.2 CACNA1H CHRNA4 GABRD GABRG2 SCN1A
10 epilepsy 30.2 CACNA1H CACNB4 CHRNA4 EFHC1 GABRA1 GABRD
11 juvenile absence epilepsy 30.1 CACNA1H EFHC1 GABRA1
12 hyper-ige recurrent infection syndrome 1, 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 12.6
17 epilepsy, idiopathic generalized 14 12.6
18 epilepsy, idiopathic generalized 13 12.6
19 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.5
20 hyper ige syndrome 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 12.4
28 epilepsy, idiopathic generalized 15 12.3
29 ige responsiveness, atopic 12.3
30 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.3
31 amelogenesis imperfecta, type ig 12.3
32 usher syndrome, type ig 12.1
33 selective ige deficiency disease 12.1
34 immunodeficiency 35 12.0
35 amelogenesis imperfecta hypoplastic type, ig 12.0
36 acquired monoclonal ig light chain-associated fanconi syndrome 12.0
37 epilepsy, childhood absence 6 12.0
38 netherton syndrome 11.9
39 alg12-congenital disorder of glycosylation 11.8
40 megaloblastic anemia 1 11.8
41 generalized epilepsy with febrile seizures plus, type 2 11.7
42 generalized epilepsy with febrile seizures plus, type 3 11.7
43 generalized epilepsy with febrile seizures plus, type 7 11.7
44 immunodeficiency 23 11.7
45 immunodeficiency 11b with atopic dermatitis 11.7
46 iminoglycinuria 11.6
47 common variable immunodeficiency 11.6
48 immunodeficiency with hyper-igm, type 1 11.5
49 asthma 11.5
50 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 11.5

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



Diseases related to Epilepsy, Idiopathic Generalized

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized

Human phenotypes related to Epilepsy, Idiopathic Generalized:

33
# Description HPO Frequency HPO Source Accession
1 generalized myoclonic seizures 33 HP:0002123
2 generalized tonic-clonic seizures 33 HP:0002069
3 eeg with spike-wave complexes (>3.5 hz) 33 HP:0010849
4 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Epilepsy, Idiopathic Generalized:


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

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CACNA1H CACNB4 CHRNA4 DDHD2 EFHC1 GABRA1
2 nervous system MP:0003631 9.44 CACNA1H CACNB4 CHRNA4 DDHD2 EFHC1 GABRA1

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved, Investigational Phase 3 102767-28-2 441341
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
Calcium Approved, Nutraceutical Phase 3,Phase 2 7440-70-2 271
7 Nootropic Agents Phase 3
8 Anticonvulsants Phase 3,Phase 2
9 Hypoglycemic Agents Phase 3
10 Sodium Channel Blockers Phase 3,Phase 2
11 Diuretics, Potassium Sparing Phase 3,Phase 2
12 Pharmaceutical Solutions Phase 3
13 Hormones Phase 3,Phase 2
14 calcium channel blockers Phase 3,Phase 2
15 Calcium, Dietary Phase 3,Phase 2
16
Apomorphine Approved, Investigational Not Applicable 41372-20-7, 58-00-4 6005
17
Dopamine Approved Not Applicable 62-31-7, 51-61-6 681
18 Neuroserpin
19 Astragalus
20 Cardiotonic Agents Not Applicable
21 Protective Agents Not Applicable
22 Gastrointestinal Agents Not Applicable
23 Neurotransmitter Agents Not Applicable
24 Sympathomimetics Not Applicable
25 Autonomic Agents Not Applicable
26 Dopamine Agents Not Applicable
27 Emetics Not Applicable
28 Dopamine agonists Not Applicable
29 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 Suspended 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 30

Anatomical Context for Epilepsy, Idiopathic Generalized

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized:

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

Publications for Epilepsy, Idiopathic Generalized

Articles related to Epilepsy, Idiopathic Generalized:

(show top 50) (show all 311)
# Title Authors Year
1
Reduced resilience of brain gray matter networks in idiopathic generalized epilepsy: A graph-theoretical analysis. ( 30768622 )
2019
2
Abnormalities of diffusional kurtosis imaging and regional homogeneity in idiopathic generalized epilepsy with generalized tonic-clonic seizures. ( 30651841 )
2019
3
Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy. ( 30269157 )
2019
4
The electroclinical features of idiopathic generalized epilepsy patients presenting with fixation-off sensitivity. ( 30530446 )
2018
5
Generalized polyspike train: An EEG biomarker of drug-resistant idiopathic generalized epilepsy. ( 30530561 )
2018
6
The cognitive phenotype of idiopathic generalized epilepsy. ( 30408705 )
2018
7
Disrupted Coupling Between the Spontaneous Fluctuation and Functional Connectivity in Idiopathic Generalized Epilepsy. ( 30344508 )
2018
8
Genetic (idiopathic) generalized epilepsy with occipital semiology. ( 30361187 )
2018
9
Generalized polyspike train: An EEG biomarker of drug-resistant idiopathic generalized epilepsy. ( 30315071 )
2018
10
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. ( 30062784 )
2018
11
The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs. ( 29894917 )
2018
12
Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types. ( 29729533 )
2018
13
De novo late-onset absence status epilepticus or late-onset idiopathic generalized epilepsy? A case report and systematic review of the literature. ( 29620008 )
2018
14
Exceptional response to brivaracetam in a patient with refractory idiopathic generalized epilepsy and absence seizures. ( 29160210 )
2018
15
Impaired theory of mind in Chinese children and adolescents with idiopathic generalized epilepsy: Association with behavioral manifestations of executive dysfunction. ( 29309954 )
2018
16
Prognostic factors in patients with refractory idiopathic generalized epilepsy. ( 28157601 )
2017
17
Effects of Marijuana on Ictal and Interictal EEG Activities in Idiopathic Generalized Epilepsy. ( 27763968 )
2017
18
Functional Network Connectivity Patterns between Idiopathic Generalized Epilepsy with Myoclonic and Absence Seizures. ( 28588471 )
2017
19
Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy. ( 28829985 )
2017
20
Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic-clonic seizure. ( 27726245 )
2017
21
Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies. ( 28060866 )
2017
22
Complement system dysregulation in patients affected by Idiopathic Generalized Epilepsy and the effect of antiepileptic treatment. ( 28985614 )
2017
23
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
24
Effects of continuous theta burst transcranial magnetic stimulation on cortical excitability in patients with idiopathic generalized epilepsy. ( 29073474 )
2017
25
The Mechanism of Anti-Epileptogenesis by Levetiracetam Treatment is Similar to the Spontaneous Recovery of Idiopathic Generalized Epilepsy during Adolescence. ( 29209390 )
2017
26
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
27
Patterns of postictal cerebral perfusion in idiopathic generalized epilepsy: a multi-delay multi-parametric arterial spin labelling perfusion MRI study. ( 27374369 )
2016
28
Perampanel: Another Choice for Patients With Idiopathic Generalized Epilepsy Who Have Tonic-Clonic Seizures. ( 26900373 )
2016
29
Focal interictal epileptiform discharges in idiopathic generalized epilepsy. ( 26956566 )
2016
30
Moral judgment in patients with idiopathic generalized epilepsy. ( 27567267 )
2016
31
A diffusional kurtosis imaging study of idiopathic generalized epilepsy with unilateral interictal epileptiform discharges in children. ( 27269387 )
2016
32
Neocortical gamma oscillations in idiopathic generalized epilepsy. ( 26996827 )
2016
33
Perampanel for the treatment of primary generalized tonic-clonic seizures in idiopathic generalized epilepsy. ( 27267634 )
2016
34
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
35
Altered Effective Connectivity among Core Neurocognitive Networks in Idiopathic Generalized Epilepsy: An fMRI Evidence. ( 27656137 )
2016
36
Thalamic hypoperfusion and disrupted cerebral blood flow networks in idiopathic generalized epilepsy: Arterial spin labeling and graph theoretical analysis. ( 28043066 )
2016
37
Ethnic variation of genetic (idiopathic) generalized epilepsy in Malaysia. ( 27912112 )
2016
38
Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion-Semicurve findings in adult patients. ( 27344501 )
2016
39
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
40
A computational biomarker of idiopathic generalized epilepsy from resting state EEG. ( 27501083 )
2016
41
Cognitive Profile of Zonisamide and Valproic Acid in the Treatment of Idiopathic Generalized Epilepsy: A Comparative Observational Study. ( 27086007 )
2016
42
Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy: A randomized trial. ( 26296511 )
2015
43
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 25740859 )
2015
44
No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. ( 26958022 )
2015
45
Identifying Corticothalamic Network Epicenters in Patients with Idiopathic Generalized Epilepsy. ( 25907518 )
2015
46
A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy. ( 26588588 )
2015
47
Determination of haptoglobin genotype in an Iranian population with idiopathic generalized epilepsy. ( 26989737 )
2015
48
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 26438619 )
2015
49
Investigation of the cingulate cortex in idiopathic generalized epilepsy. ( 26417846 )
2015
50
Altered functional connectivity among default, attention, and control networks in idiopathic generalized epilepsy. ( 25935514 )
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.5897C> T (p.Ala1966Val) single nucleotide variant Benign rs72552054 GRCh37 Chromosome 16, 1268979: 1268979
2 CACNA1H NM_021098.2(CACNA1H): c.5897C> T (p.Ala1966Val) single nucleotide variant Benign rs72552054 GRCh38 Chromosome 16, 1218979: 1218979
3 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
4 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
5 GABRA1 NM_000806.5(GABRA1): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs143815396 GRCh37 Chromosome 5, 161281174: 161281174
6 GABRA1 NM_000806.5(GABRA1): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs143815396 GRCh38 Chromosome 5, 161854168: 161854168
7 CACNB4 NM_000726.4(CACNB4): c.1355G> A (p.Arg452Lys) single nucleotide variant Uncertain significance rs762394421 GRCh37 Chromosome 2, 152695841: 152695841
8 CACNB4 NM_000726.4(CACNB4): c.1355G> A (p.Arg452Lys) single nucleotide variant Uncertain significance rs762394421 GRCh38 Chromosome 2, 151839327: 151839327
9 CACNB4 NM_000726.4(CACNB4): c.792T> C (p.Ser264=) single nucleotide variant Benign rs139448267 GRCh37 Chromosome 2, 152717301: 152717301
10 CACNB4 NM_000726.4(CACNB4): c.792T> C (p.Ser264=) single nucleotide variant Benign rs139448267 GRCh38 Chromosome 2, 151860787: 151860787
11 CACNB4 NM_000726.4(CACNB4): c.45G> A (p.Pro15=) single nucleotide variant Benign/Likely benign rs536646578 GRCh37 Chromosome 2, 152955481: 152955481
12 CACNB4 NM_000726.4(CACNB4): c.45G> A (p.Pro15=) single nucleotide variant Benign/Likely benign rs536646578 GRCh38 Chromosome 2, 152098967: 152098967
13 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
14 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
15 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh37 Chromosome 2, 152955518: 152955518
16 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh38 Chromosome 2, 152099004: 152099004
17 GABRA1 NM_000806.5(GABRA1): c.831G> A (p.Glu277=) single nucleotide variant Benign rs764666718 GRCh38 Chromosome 5, 161891025: 161891025
18 GABRA1 NM_000806.5(GABRA1): c.831G> A (p.Glu277=) single nucleotide variant Benign rs764666718 GRCh37 Chromosome 5, 161318031: 161318031
19 POLG NM_002693.2(POLG): c.1270_1271delCT (p.Leu424Glyfs) deletion Pathogenic rs796052908 GRCh38 Chromosome 15, 89327329: 89327330
20 POLG NM_002693.2(POLG): c.1270_1271delCT (p.Leu424Glyfs) deletion Pathogenic rs796052908 GRCh37 Chromosome 15, 89870560: 89870561
21 CACNA1H NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh37 Chromosome 16, 1252303: 1252303
22 CACNA1H NM_021098.2(CACNA1H): c.1853C> T (p.Pro618Leu) single nucleotide variant risk factor rs60734921 GRCh38 Chromosome 16, 1202303: 1202303
23 CACNA1H NM_021098.2(CACNA1H): c.2626G> A (p.Ala876Thr) single nucleotide variant Benign rs58173258 GRCh37 Chromosome 16, 1256126: 1256126
24 CACNA1H NM_021098.2(CACNA1H): c.2626G> A (p.Ala876Thr) single nucleotide variant Benign rs58173258 GRCh38 Chromosome 16, 1206126: 1206126
25 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
26 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
27 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
28 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh38 Chromosome 9, 6589230: 6589230
29 ME2 ME2, HAPLOTYPE (rs674351, rs584087, rs585344, rs608781, rs642698, rs674210, rs645088, rs649224, rs654136) undetermined variant Uncertain significance
30 GABRD NM_000815.4(GABRD): c.659G> A (p.Arg220His) single nucleotide variant risk factor rs41307846 GRCh37 Chromosome 1, 1959699: 1959699
31 GABRD NM_000815.4(GABRD): c.659G> A (p.Arg220His) single nucleotide variant risk factor rs41307846 GRCh38 Chromosome 1, 2028260: 2028260
32 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh37 Chromosome 8, 38111160: 38111160
33 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh38 Chromosome 8, 38253642: 38253642
34 SCN1A NM_006920.4(SCN1A): c.1183G> C (p.Ala395Pro) single nucleotide variant not provided rs121917988 GRCh37 Chromosome 2, 166903474: 166903474
35 SCN1A NM_006920.4(SCN1A): c.1183G> C (p.Ala395Pro) single nucleotide variant not provided rs121917988 GRCh38 Chromosome 2, 166046964: 166046964
36 SCN1A NM_006920.4(SCN1A): c.1265T> A (p.Val422Glu) single nucleotide variant not provided rs121917989 GRCh37 Chromosome 2, 166903392: 166903392
37 SCN1A NM_006920.4(SCN1A): c.1265T> A (p.Val422Glu) single nucleotide variant not provided rs121917989 GRCh38 Chromosome 2, 166046882: 166046882
38 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh37 Chromosome 2, 166900346: 166900346
39 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh38 Chromosome 2, 166043836: 166043836
40 SCN1A NM_006920.4(SCN1A): c.2884A> G (p.Met962Val) single nucleotide variant not provided rs121917991 GRCh37 Chromosome 2, 166894315: 166894315
41 SCN1A NM_006920.4(SCN1A): c.2884A> G (p.Met962Val) single nucleotide variant not provided rs121917991 GRCh38 Chromosome 2, 166037805: 166037805
42 GABRA1 NM_000806.5(GABRA1): c.1323G> A (p.Thr441=) single nucleotide variant Benign rs138259457 GRCh37 Chromosome 5, 161324380: 161324380
43 GABRA1 NM_000806.5(GABRA1): c.1323G> A (p.Thr441=) single nucleotide variant Benign rs138259457 GRCh38 Chromosome 5, 161897374: 161897374
44 CACNA1H NM_021098.2(CACNA1H): c.1664C> T (p.Ala555Val) single nucleotide variant Benign rs9924241 GRCh37 Chromosome 16, 1252114: 1252114
45 CACNA1H NM_021098.2(CACNA1H): c.1664C> T (p.Ala555Val) single nucleotide variant Benign rs9924241 GRCh38 Chromosome 16, 1202114: 1202114
46 CACNA1H NM_021098.2(CACNA1H): c.1844C> T (p.Thr615Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368976749 GRCh37 Chromosome 16, 1252294: 1252294
47 CACNA1H NM_021098.2(CACNA1H): c.1844C> T (p.Thr615Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368976749 GRCh38 Chromosome 16, 1202294: 1202294
48 CACNA1H NM_021098.2(CACNA1H): c.2265C> T (p.Gly755=) single nucleotide variant Benign rs61073355 GRCh37 Chromosome 16, 1254272: 1254272
49 CACNA1H NM_021098.2(CACNA1H): c.2265C> T (p.Gly755=) single nucleotide variant Benign rs61073355 GRCh38 Chromosome 16, 1204272: 1204272
50 CACNA1H NM_021098.2(CACNA1H): c.3555G> A (p.Ala1185=) single nucleotide variant Conflicting interpretations of pathogenicity rs370039255 GRCh37 Chromosome 16, 1259223: 1259223

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 9.95 CACNA1H CHRNA4 GABRA1 GABRD GABRG2 KCNQ2
2 postsynaptic membrane GO:0045211 9.67 CHRNA4 GABRA1 GABRD GABRG2
3 GABA-ergic synapse GO:0098982 9.5 GABRA1 GABRD GABRG2
4 chloride channel complex GO:0034707 9.43 GABRA1 GABRD GABRG2
5 axon initial segment GO:0043194 9.33 KCNQ2 KCNQ3 SCN1A
6 GABA-A receptor complex GO:1902711 9.13 GABRA1 GABRD GABRG2
7 node of Ranvier GO:0033268 8.8 KCNQ2 KCNQ3 SCN1A

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.81 CACNA1H CACNB4 CHRNA4 GABRA1 GABRD GABRG2
2 regulation of ion transmembrane transport GO:0034765 9.8 CACNA1H CACNB4 KCNQ2 KCNQ3 SCN1A
3 ion transmembrane transport GO:0034220 9.8 CACNA1H CHRNA4 GABRA1 GABRD GABRG2 KCNQ2
4 calcium ion transport GO:0006816 9.72 CACNA1H CACNB4 CHRNA4
5 nervous system process GO:0050877 9.67 CHRNA4 GABRA1 GABRD GABRG2
6 chloride transmembrane transport GO:1902476 9.65 GABRA1 GABRD GABRG2
7 chloride transport GO:0006821 9.63 GABRA1 GABRD GABRG2
8 regulation of postsynaptic membrane potential GO:0060078 9.62 CHRNA4 GABRA1 GABRD GABRG2
9 neuronal action potential GO:0019228 9.56 CACNA1H SCN1A
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.54 GABRA1 GABRG2
11 membrane depolarization GO:0051899 9.52 CACNB4 CHRNA4
12 membrane depolarization during action potential GO:0086010 9.51 CACNA1H SCN1A
13 chemical synaptic transmission GO:0007268 9.5 CACNB4 CHRNA4 GABRA1 GABRD GABRG2 KCNQ2
14 synaptic transmission, GABAergic GO:0051932 9.49 GABRA1 GABRG2
15 cellular response to histamine GO:0071420 9.43 GABRA1 GABRG2
16 regulation of membrane potential GO:0042391 9.1 CACNA1H CHRNA4 GABRA1 GABRD GABRG2 SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.62 CACNA1H KCNQ2 KCNQ3 SCN1A
2 chloride channel activity GO:0005254 9.54 GABRA1 GABRD GABRG2
3 GABA-gated chloride ion channel activity GO:0022851 9.46 GABRA1 GABRG2
4 benzodiazepine receptor activity GO:0008503 9.43 GABRA1 GABRG2
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.43 GABRA1 GABRD GABRG2
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.4 GABRA1 GABRG2
7 ion channel activity GO:0005216 9.35 CHRNA4 GABRA1 GABRD GABRG2 SCN1A
8 GABA-A receptor activity GO:0004890 9.33 GABRA1 GABRD GABRG2
9 extracellular ligand-gated ion channel activity GO:0005230 8.92 CHRNA4 GABRA1 GABRD GABRG2

Sources for Epilepsy, Idiopathic Generalized

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