EIG
MCID: EPL140
MIFTS: 60

Epilepsy, Idiopathic Generalized (EIG)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized:

Name: Epilepsy, Idiopathic Generalized 57 54
Idiopathic Generalized Epilepsy 57 12 29 6 15 70
Epilepsy, Idiopathic Generalized, Susceptibility to, 1 57 13
Epilepsy, Generalized 44 70
Generalised Epilepsy 12 17
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 1 39
Epilepsy, Idiopathic Generalized, Susceptibility to 6
Idiopathic Generalized Epilepsy; Ige 57
Epilepsy, Idiopathic Generalized 1 57
Epilepsy, Idiopathic, Generalized 39
Eig 57
Ige 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
epilepsy, idiopathic generalized:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1827
OMIM® 57 600669
OMIM Phenotypic Series 57 PS600669
MeSH 44 D004829
NCIt 50 C3021
SNOMED-CT 67 155043003
MedGen 41 C0270850
UMLS 70 C0014548 C0270850

Summaries for Epilepsy, Idiopathic Generalized

OMIM® : 57 Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. (600669) (Updated 05-Apr-2021)

MalaCards based summary : Epilepsy, Idiopathic Generalized, also known as idiopathic generalized epilepsy, is related to childhood absence epilepsy and generalized epilepsy with febrile seizures plus, type 2, and has symptoms including seizures, non-epileptic convulsion and myoclonic seizures. An important gene associated with Epilepsy, Idiopathic Generalized is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1), and among its related pathways/superpathways are L1CAM interactions and Celecoxib Pathway, Pharmacodynamics. The drugs Levetiracetam and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are eeg with spike-wave complexes (>3.5 hz) and bilateral tonic-clonic seizure

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 : 73 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 Epilepsy, Idiopathic Generalized 16

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

(show top 50) (show all 1095)
# Related Disease Score Top Affiliating Genes
1 childhood absence epilepsy 32.6 SCN1A RORB MIR6130 ME2 LOC101927358 KCNQ3
2 generalized epilepsy with febrile seizures plus, type 2 32.5 SCN1A GABRG2
3 febrile seizures, familial, 8 32.3 SCN1A GABRG2
4 epilepsy, myoclonic juvenile 32.2 SCN1A ME2 KCNQ3 KCNQ2 GABRG2 GABRA1
5 epilepsy, childhood absence 1 32.1 RORB MIR6130 LOC101927358
6 generalized epilepsy with febrile seizures plus, type 7 32.1 SCN1A GABRG2
7 juvenile absence epilepsy 31.7 SCN1A GABRG2 GABRA1 EFHC1 CACNA1H
8 epilepsy with generalized tonic-clonic seizures 31.5 SCN1A GABRG2 GABRA1 EFHC1
9 focal epilepsy 31.5 SCN1A GABRG2 CACNA1H
10 status epilepticus 31.4 SCN1A POLG KCNQ2
11 epilepsy 31.1 SCN1A RORB POLG ME2 KCNQ3 KCNQ2
12 early myoclonic encephalopathy 31.0 SCN1A POLG KCNQ3 KCNQ2 GABRG2 GABRA1
13 febrile seizures 30.9 SCN1A KCNQ2 GABRG2
14 benign familial neonatal epilepsy 30.8 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1
15 dravet syndrome 30.8 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1 EFHC1
16 seizure disorder 30.8 SCN1A POLG KCNQ3 KCNQ2 GABRG2 GABRA1
17 lennox-gastaut syndrome 30.8 SCN1A POLG KCNQ3 KCNQ2 GABRG2 GABRA1
18 generalized epilepsy with febrile seizures plus 30.8 SCN1A ME2 KCNQ3 KCNQ2 GABRG2 GABRA1
19 encephalopathy 30.7 SCN1A POLG KCNQ2
20 myoclonic epilepsy of infancy 30.6 SCN1A GABRG2
21 landau-kleffner syndrome 30.6 SCN1A KCNQ2 GABRG2
22 epilepsy, nocturnal frontal lobe, 1 30.6 SCN1A KCNQ3 KCNQ2 GABRG2
23 reflex epilepsy 30.6 SCN1A GABRG2
24 photosensitive epilepsy 30.6 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1 EFHC1
25 autosomal dominant nocturnal frontal lobe epilepsy 30.5 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1 EFHC1
26 episodic ataxia 30.5 SCN1A KCNQ3 KCNQ2
27 benign epilepsy with centrotemporal spikes 30.5 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1 EFHC1
28 migraine with or without aura 1 30.5 SCN1A POLG KCNQ3 KCNQ2 CACNA1H
29 unverricht-lundborg syndrome 30.5 SCN1A POLG KCNQ3 KCNQ2 GABRG2 EFHC1
30 epilepsy, idiopathic generalized 8 11.8
31 hyper-ige recurrent infection syndrome 1, autosomal dominant 11.7
32 epilepsy, idiopathic generalized 9 11.7
33 epilepsy, idiopathic generalized 10 11.7
34 epilepsy, idiopathic generalized 11 11.7
35 epilepsy, idiopathic generalized 12 11.7
36 epilepsy, idiopathic generalized 14 11.7
37 epilepsy, idiopathic generalized 15 11.7
38 epilepsy, idiopathic generalized 16 11.7
39 hyper ige syndrome 11.7
40 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.6
41 epilepsy, idiopathic generalized 4 11.6
42 epilepsy, idiopathic generalized 7 11.5
43 epilepsy, idiopathic generalized 2 11.5
44 epilepsy, idiopathic generalized 3 11.5
45 epilepsy, idiopathic generalized 5 11.5
46 ige responsiveness, atopic 11.5
47 epilepsy, idiopathic generalized 13 11.5
48 epilepsy, childhood absence 6 11.5
49 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.5
50 hyper-ige recurrent infection syndrome 4, autosomal recessive 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:

31
# Description HPO Frequency HPO Source Accession
1 eeg with spike-wave complexes (>3.5 hz) 31 HP:0010849
2 bilateral tonic-clonic seizure 31 HP:0002069
3 generalized myoclonic seizure 31 HP:0002123
4 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
myoclonic seizures
absence seizures
generalized seizures, recurrent
eeg shows generalized, bilateral, synchronous, symmetrical discharge
more

Clinical features from OMIM®:

600669 (Updated 05-Apr-2021)

UMLS symptoms related to Epilepsy, Idiopathic Generalized:


seizures; non-epileptic convulsion; myoclonic seizures; absence seizures

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 CACNA1H DDHD2 EFHC1 GABRA1 GABRG2 GLDC

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved Phase 4 102767-28-2 441341
2
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
3
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
4
Topiramate Approved Phase 4 97240-79-4 5284627
5
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
6 Psychotropic Drugs Phase 4
7 Neurotransmitter Agents Phase 4
8 Anticonvulsants Phase 4
9 Nootropic Agents Phase 4
10 calcium channel blockers Phase 4
11 Calcium, Dietary Phase 4
12 Hormones Phase 4
13 Sodium Channel Blockers Phase 4
14 Diuretics, Potassium Sparing Phase 4
15 Antipsychotic Agents Phase 4
16 Protective Agents Phase 4
17 Antioxidants Phase 4
18 Hypoglycemic Agents Phase 4
19
Calcium Nutraceutical Phase 4 7440-70-2 271
20
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
21
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
22
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 3 439-14-5 3016
23
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
24
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
25 Gastrointestinal Agents Phase 3
26 GABA Agonists Phase 3
27 Anti-Anxiety Agents Phase 3
28 Anesthetics Phase 3
29 Antiemetics Phase 3
30 Hypnotics and Sedatives Phase 3
31 GABA Modulators Phase 3
32 Anesthetics, Intravenous Phase 3
33 Anesthetics, General Phase 3
34 Pharmaceutical Solutions Phase 3
35
Dopamine Approved 62-31-7, 51-61-6 681
36
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
37 Dopamine Agents
38 Dopamine agonists
39 Emetics
40 Fluorodeoxyglucose F18
41 Radiopharmaceuticals
42 Trace Elements
43 Micronutrients

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Comparison Study of Efficacy and Safety of Levetiracetam Versus Valproate in Treatment of Idiopathic Generalized Tonic-clonic Seizures Completed NCT03940326 Phase 4 Levetiracetam;Valproate
2 A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group Evaluation of Lamotrigine Adjunctive Therapy in Subjects Wtih Primary Generalized Tonic-Clonic Seizures Completed NCT00043901 Phase 4 lamotrigine
3 Effect of Melatonin on Seizure Outcome, Neuronal Damage and Quality of Life in Patients With Generalized Epilepsy: A Randomized, add-on Placebo-controlled Clinical Trial Completed NCT03590197 Phase 4 Melatonin 3 mg
4 TOPAMAX� (Topiramate) Initiated as Monotherapy in Epilepsy (TIME): A Multicenter, Outpatient, Open-Label, Study to Evaluate the Dosing, Effectiveness and Safety of TOPAMAX� as Monotherapy in the Treatment of Epilepsy in Clinical Practice Completed NCT00266604 Phase 4 Topiramate
5 A Double-blind, Multicenter, Randomized, Placebo-controlled Study to Evaluate the Efficacy and Safety of Levetiracetam (LEV) (Oral Tablets of 500 mg b.i.d.) at a Dose of 3000 mg/Day as Adjunctive Treatment in Adolescents (≥ 12 Years) and Adults (≤ 65 Years) Suffering From Idiopathic Generalized Epilepsy With Myoclonic Seizures. Completed NCT00150774 Phase 3 Levetiracetam
6 A Double-blind, Multicenter, Randomized, Placebo-controlled Study to Evaluate the Efficacy and Safety of Adjunctive Treatment With 3000 mg/Day (Pediatric Target Dose of 60 mg/kg/Day) Oral Levetiracetam (LEV) (166, 250, and 500mg Tablets), in Adult and Pediatric Subjects (4-65 Years) Suffering From Idiopathic Generalized Epilepsy With Primary Generalized Tonic-clonic (PGTC) Seizures. Completed NCT00160550 Phase 3 Levetiracetam
7 A Double-blind, Randomized, Placebo-controlled, Parallel-Group, Multicenter Study to Evaluate the Efficacy and Safety of Lacosamide as Adjunctive Therapy for Uncontrolled Primary Generalized Tonic-Clonic Seizures in Subjects With Idiopathic Generalized Epilepsy Completed NCT02408523 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
8 A Multicenter, Open-label, Follow-up Trial Evaluating the Long-term Safety of Levetiracetam Individualized Dose From 1000 to 3000 mg/Day (Oral Tablets of 500 mg b.i.d.), Used as Monotherapy in Subjects (≥ 16 Years) Suffering From Epilepsy and Coming From the N01061 or the N01093 Trials. Completed NCT00150813 Phase 3 Levetiracetam
9 A Multicenter, Double-blind, Follow-up Trial Evaluating the Long-term Safety of Levetiracetam (1000 to 3000 mg/Day Oral b.i.d.) and Carbamazepine (400 to 1200 mg/Day Oral b.i.d.), Used as Monotherapy in Subjects (≥ 16 Years) Coming From the N01061 Trial. Completed NCT00150787 Phase 3 LEVETIRACETAM
10 A Multicenter, Double-blind, Randomized, Parallel-group Evaluation of LAMICTAL Extended-Release Adjunctive Therapy in Patients With Primary Generalized Tonic-Clonic Seizures Completed NCT00104416 Phase 3 lamotrigine (LAMICTAL) extended-release;Placebo
11 Prospective Pilot Study on Metabolism and Weight Changes in Subjects With Diagnosed Partial Onset Epilepsy, With or Without Secondarily Generalized Seizures and Treated With Topiramate. Completed NCT00236886 Phase 3 topiramate
12 An Open-label, Multicenter, Follow-up Study to Evaluate the Safety and Efficacy of Levetiracetam (LEV) (Oral Tablets of 166, 250 or 500 mg b.i.d.), at Individualized Doses up to a Maximum of 4000 mg/Day (or 80 mg/kg/Day for Children and Adolescents Less Than 50 kg), in Children (≥ 4 Years Old), Adolescents and Adults Suffering From Primary Generalized Seizures Completed NCT00150748 Phase 3 Levetiracetam 166 mg;Levetiracetam 250 mg;Levetiracetam 500 mg
13 A Phase 3, Randomized, Double-blind, Parallel, Placebo-controlled, Multicenter Study, With Optional Open-label Continuation, Of The Efficacy And Safety Of Vanquix(tm) Auto-injector (Diazepam Injection) For The Management Of Selected, Refractory, Patients With Epilepsy Who Require Intermittent Medical Intervention To Control Episodes Of Acute Repetitive Seizures Completed NCT00319501 Phase 3 Placebo;Vanquix Auto-Injector (Diazepam Injection)
14 A Randomized, Double-Blind, Parallel-Group, Monotherapy Study to Compare the Safety and Efficacy of Two Doses of Topiramate in the Treatment of Newly Diagnosed or Recurrent Epilepsy Completed NCT00231556 Phase 3 topiramate
15 A Multicenter, Double-blind, Randomized, Parallel Group, Positive-controlled Trial Comparing the Efficacy and Safety of Levetiracetam (1000 to 3000 mg/Day Oral b.i.d.) to Carbamazepine (400 to 1200 mg/Day Oral b.i.d.), Used as Monotherapy for up to a Maximum of 121 Weeks in Subjects (≥ 16 Years) Newly or Recently Diagnosed as Suffering From Epilepsy, and Experiencing Partial or Generalized Tonic-clonic Seizures Completed NCT00150735 Phase 3 LEVETIRACETAM
16 Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Clobazam in Patients With Lennox-Gastaut Syndrome Completed NCT00518713 Phase 3 Clobazam Low Dose;Clobazam Medium Dose;Clobazam High Dose;Placebo
17 An Open-label, Multicenter Extension Study to Evaluate the Long-term Safety and Efficacy of Lacosamide as Adjunctive Therapy for Uncontrolled Primary Generalized Tonic Clonic Seizures in Subjects With Idiopathic Generalized Epilepsy Active, not recruiting NCT02408549 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
18 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Cenobamate Adjunctive Therapy in Subjects With PGTC Seizures Active, not recruiting NCT03678753 Phase 3 Cenobamate;Placebo
19 A Multicenter Open-Label Extension Study to Evaluate the Long-Term Safety of Cenobamate Adjunctive Therapy in Subjects With Primary Generalized Tonic-Clonic Seizures Enrolling by invitation NCT03961568 Phase 3 Cenobamate
20 A Double-blind, Randomised, Placebo-controlled, Multi-centre Study to Assess the Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
21 A Phase 2a, Safety, Tolerability, Pharmacokinetics, and Quantitative EEG Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Completed NCT03406702 Phase 2 CX-8998
22 An Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Long-Term Oral Lacosamide for Uncontrolled Primary Generalized Tonic-Clonic Seizures in Subjects With Idiopathic Generalized Epilepsy Completed NCT01118962 Phase 2 Lacosamide
23 An Open-Label Pilot Study to Assess the Safety of Oral Lacosamide as Adjunctive Therapy for Uncontrolled Primary Generalized Tonic-Clonic Seizures in Subjects With Idiopathic Generalized Epilepsy Completed NCT01118949 Phase 2 Lacosamide
24 Safety and Efficacy of Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT00162981 Phase 2 Clobazam Low Dose;Clobazam High Dose
25 A Relative Bioavailability Study of Two Formulations of Topiramate 100 mg Coated Tablet in Healthy Male Volunteers, the Test Formulation Produced by Dr. Reddy's Laboratories Ltd. and the Reference Formulation (Topamax®) Marked by Janssen-Cilag Farmacêutica Ltda. Completed NCT01439438 Phase 1 Topiramate coated tablet;Topamax® coated tablet
26 Microburst VNS Therapy Feasibility Study in Subjects With Refractory Epilepsy Active, not recruiting NCT03446664 Phase 1
27 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
28 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
29 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
30 The Relationship Between Periodic Limb Movement and Seizure Recurrence in Genetic Generalized Epilepsy Completed NCT03587506
31 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
32 Modified Atkins Diet Treatment for Adults With Drug-resistant Epilepsy - a Controlled, Randomized Trial Completed NCT01311440
33 A Prospective, Non-Interventional, Observational, Multicenter Study to Investigate Dosage, Effectiveness, and Safety of Perampanel When Used as First Adjunctive Therapy in the Routine Clinical Care of Subjects >=12 Years With Partial Onset Seizures With or Without Secondary Generalization or With Primary Generalized Tonic-Clonic Seizures Associated With Idiopathic Generalized Epilepsy Recruiting NCT04252846 Perampanel
34 Long-term Cardiac Monitoring in Epilepsy: Comparative Group Study to Assess Risk of Interictal and Ictal Cardiac Dysfunction Recruiting NCT03955432
35 Quality of Life in Epilepsy Patients Wearing a Biosensor for Seizure Detection Through Electrodermal Activity and Accelerometry - a Pilot Study Recruiting NCT03831802
36 Detecting Absence Seizures Using Eye Tracking Recruiting NCT04439656
37 Post-market Study of AMPA Receptor Antagonists for Epilepsy Patients in Hong Kong Recruiting NCT03457961 Perampanel
38 Clinic to Community© Program for Adults With Epilepsy Admitted to Emergency Departments: A Randomized Controlled Trial Not yet recruiting NCT04248920
39 A Pilot Study of the Tolerability and Efficacy of Transcranial Direct Current Stimulation (tDCS) in Children and Adolescents With Epilepsy and Comorbid Depression Withdrawn NCT03368469
40 XLTCS - Accelerometer Data Collection in an Epilepsy Monitoring Unit (EMU) Withdrawn NCT04282681

Search NIH Clinical Center for Epilepsy, Idiopathic Generalized

Cochrane evidence based reviews: epilepsy, generalized

Genetic Tests for Epilepsy, Idiopathic Generalized

Genetic tests related to Epilepsy, Idiopathic Generalized:

# Genetic test Affiliating Genes
1 Idiopathic Generalized Epilepsy 29

Anatomical Context for Epilepsy, Idiopathic Generalized

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized:

40
Brain, Temporal Lobe, Cortex, Eye, Thalamus, Cingulate Cortex, Occipital Lobe

Publications for Epilepsy, Idiopathic Generalized

Articles related to Epilepsy, Idiopathic Generalized:

(show top 50) (show all 1062)
# Title Authors PMID Year
1
Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy. 57 54 61
12221164 2002
2
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 6 61
27521439 2016
3
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 61 57
19191339 2009
4
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 61 6
16718694 2006
5
An association between type 1 diabetes and idiopathic generalized epilepsy. 57 61
16374819 2006
6
Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. 61 57
11463517 2001
7
Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. 57 61
11342703 2001
8
Mapping of genes predisposing to idiopathic generalized epilepsy. 61 57
8528209 1995
9
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
10
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
11
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 6
27353043 2016
12
De novo GABRA1 mutations in Ohtahara and West syndromes. 6
26918889 2016
13
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. 6
25950944 2015
14
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. 6
25417924 2014
15
Copy number variation plays an important role in clinical epilepsy. 6
24811917 2014
16
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 6
24623842 2014
17
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum. 6
24517879 2014
18
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. 6
24337409 2014
19
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. 6
23176823 2012
20
Rare copy number variants are an important cause of epileptic encephalopathies. 6
22190369 2011
21
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 57
21703448 2011
22
Genes associated with idiopathic epilepsies: a current overview. 57
19298753 2009
23
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 6
18546365 2008
24
Classification of partial seizure symptoms in genetic studies of the epilepsies. 57
16769935 2006
25
Migraine with aura is a risk factor for unprovoked seizures in children. 57
16374824 2006
26
Familial clustering of seizure types within the idiopathic generalized epilepsies. 57
16116110 2005
27
Genetic mechanisms that underlie epilepsy. 57
15100722 2004
28
Epilepsy in twins: insights from unique historical data of William Lennox. 57
15079012 2004
29
Genetic influences on myoclonic and absence seizures. 57
14663045 2003
30
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 6
12707443 2003
31
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. 6
10873393 2000
32
Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy. 57
10690754 2000
33
Epilepsies in twins: genetics of the major epilepsy syndromes. 57
9546323 1998
34
Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice. 57
7550318 1995
35
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 57
2502382 1989
36
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 54 61
19577488 2009
37
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 61 54
19464834 2009
38
Association of GABRG2 polymorphisms with idiopathic generalized epilepsy. 61 54
17162195 2007
39
Some genetic and biochemical aspects of myoclonus. 54 61
17336771 2006
40
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. 61 54
16406321 2006
41
Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. 61 54
16190936 2005
42
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 54 61
15944908 2005
43
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. 61 54
15852375 2005
44
Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. 61 54
15532013 2005
45
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. 54 61
15134710 2004
46
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 54 61
15079011 2004
47
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. 54 61
14738422 2004
48
The lack of association between febrile convulsions and polymorphisms in SCN1A. 61 54
12742596 2003
49
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 54 61
11254445 2001
50
No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy. 61 54
10996506 2000

Variations for Epilepsy, Idiopathic Generalized

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized:

6 (show top 50) (show all 1476)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) Microsatellite Pathogenic 206608 rs796052908 GRCh37: 15:89870560-89870561
GRCh38: 15:89327329-89327330
2 DDHD2 NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) SNV Pathogenic 39679 rs375168720 GRCh37: 8:38111160-38111160
GRCh38: 8:38253642-38253642
3 GABRA1 NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) Deletion Pathogenic 568345 rs1561587715 GRCh37: 5:161322682-161322701
GRCh38: 5:161895676-161895695
4 GABRA1 NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) SNV Pathogenic 265161 rs727503940 GRCh37: 5:161309644-161309644
GRCh38: 5:161882638-161882638
5 overlap with 4 genes NC_000005.9:g.(?_160721068)_(161528343_?)del Deletion Pathogenic 833049 GRCh37: 5:160721068-161528343
GRCh38:
6 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) SNV Pathogenic 265162 rs886039373 GRCh37: 5:161309645-161309645
GRCh38: 5:161882639-161882639
7 GLDC NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) SNV Pathogenic 11985 rs121964976 GRCh37: 9:6589230-6589230
GRCh38: 9:6589230-6589230
8 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 GRCh37: 5:161300202-161300202
GRCh38: 5:161873196-161873196
9 GABRA1 NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) SNV Likely pathogenic 950574 GRCh37: 5:161317999-161317999
GRCh38: 5:161890993-161890993
10 GABRA1 NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) SNV Likely pathogenic 853851 GRCh37: 5:161322680-161322680
GRCh38: 5:161895674-161895674
11 GABRA1 NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) SNV Likely pathogenic 858746 GRCh37: 5:161318025-161318025
GRCh38: 5:161891019-161891019
12 GABRA1 NM_001127644.2(GABRA1):c.857-2A>G SNV Likely pathogenic 585892 rs1313965409 GRCh37: 5:161322670-161322670
GRCh38: 5:161895664-161895664
13 RORB , RORB-AS1 , MIR6130 , LOC101927358 9q21.13 deletion Deletion Likely pathogenic 223147 GRCh37:
GRCh38:
14 RBFOX3 NM_001082575.2(RBFOX3):c.19C>T (p.Pro7Ser) SNV Conflicting interpretations of pathogenicity 460021 rs376060745 GRCh37: 17:77111779-77111779
GRCh38: 17:79115697-79115697
15 RBFOX3 NM_001082575.2(RBFOX3):c.347G>A (p.Arg116Gln) SNV Conflicting interpretations of pathogenicity 411176 rs199891032 GRCh37: 17:77102746-77102746
GRCh38: 17:79106664-79106664
16 CACNB4 NM_000726.4(CACNB4):c.1553A>G (p.His518Arg) SNV Uncertain significance 411156 rs377492950 GRCh37: 2:152695643-152695643
GRCh38: 2:151839129-151839129
17 RBFOX1 NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser) SNV Uncertain significance 241956 rs143573994 GRCh37: 16:7568320-7568320
GRCh38: 16:7518318-7518318
18 CACNA1H NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) SNV Uncertain significance 460178 rs554435610 GRCh37: 16:1270681-1270681
GRCh38: 16:1220681-1220681
19 CACNA1H NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys) SNV Uncertain significance 460127 rs531597200 GRCh37: 16:1263824-1263824
GRCh38: 16:1213824-1213824
20 RBFOX1 NM_018723.4(RBFOX1):c.1033G>C (p.Ala345Pro) SNV Uncertain significance 460028 rs150941982 GRCh37: 16:7759095-7759095
GRCh38: 16:7709093-7709093
21 CACNA1H NM_021098.3(CACNA1H):c.5446-6C>A SNV Uncertain significance 460144 rs923710949 GRCh37: 16:1268204-1268204
GRCh38: 16:1218204-1218204
22 CACNA1H NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser) SNV Uncertain significance 460186 rs774687054 GRCh37: 16:1248704-1248704
GRCh38: 16:1198704-1198704
23 CACNA1H NM_021098.3(CACNA1H):c.300-8G>T SNV Uncertain significance 460075 rs3751662 GRCh37: 16:1244964-1244964
GRCh38: 16:1194964-1194964
24 CACNB4 NM_000726.4(CACNB4):c.1318C>G (p.His440Asp) SNV Uncertain significance 460000 rs1553740358 GRCh37: 2:152695878-152695878
GRCh38: 2:151839364-151839364
25 CACNA1H NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala) SNV Uncertain significance 460124 rs1555517834 GRCh37: 16:1262513-1262513
GRCh38: 16:1212513-1212513
26 CACNB4 NM_000726.4(CACNB4):c.770C>T (p.Thr257Met) SNV Uncertain significance 460001 rs1553749683 GRCh37: 2:152717323-152717323
GRCh38: 2:151860809-151860809
27 CACNA1H NM_021098.3(CACNA1H):c.790A>G (p.Ser264Gly) SNV Uncertain significance 460187 rs745571869 GRCh37: 16:1248761-1248761
GRCh38: 16:1198761-1198761
28 CACNA1H NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys) SNV Uncertain significance 460045 rs765665281 GRCh37: 16:1251903-1251903
GRCh38: 16:1201903-1201903
29 CACNA1H NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn) SNV Uncertain significance 460076 rs745354512 GRCh37: 16:1257788-1257788
GRCh38: 16:1207788-1207788
30 RBFOX3 NM_001082575.2(RBFOX3):c.914C>T (p.Ala305Val) SNV Uncertain significance 460026 rs1294363374 GRCh37: 17:77090555-77090555
GRCh38: 17:79094473-79094473
31 CACNA1H NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe) SNV Uncertain significance 460153 rs919557968 GRCh37: 16:1268529-1268529
GRCh38: 16:1218529-1218529
32 CACNA1H NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val) SNV Uncertain significance 460132 rs371096587 GRCh37: 16:1263908-1263908
GRCh38: 16:1213908-1213908
33 RBFOX1 NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser) SNV Uncertain significance 241955 rs201490398 GRCh37: 16:7568251-7568251
GRCh38: 16:7518249-7518249
34 RBFOX3 NM_001082575.2(RBFOX3):c.68C>T (p.Ala23Val) SNV Uncertain significance 238287 rs878854171 GRCh37: 17:77111730-77111730
GRCh38: 17:79115648-79115648
35 RBFOX1 NM_018723.4(RBFOX1):c.931-5226T>A SNV Uncertain significance 410098 rs768777551 GRCh37: 16:7721550-7721550
GRCh38: 16:7671548-7671548
36 RBFOX3 NM_001082575.2(RBFOX3):c.257C>T (p.Pro86Leu) SNV Uncertain significance 411177 rs377660420 GRCh37: 17:77102836-77102836
GRCh38: 17:79106754-79106754
37 CACNB4 NM_000726.4(CACNB4):c.1198C>T (p.Arg400Cys) SNV Uncertain significance 411155 rs1060503174 GRCh37: 2:152698521-152698521
GRCh38: 2:151842007-151842007
38 RBFOX3 NM_001082575.2(RBFOX3):c.556C>A (p.Pro186Thr) SNV Uncertain significance 411175 rs372072435 GRCh37: 17:77097678-77097678
GRCh38: 17:79101596-79101596
39 RBFOX1 NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser) SNV Uncertain significance 410099 rs199644500 GRCh37: 16:7726800-7726800
GRCh38: 16:7676798-7676798
40 ME2 ME2, HAPLOTYPE (rs674351, rs584087, rs585344, rs608781, rs642698, rs674210, rs645088, rs649224, rs654136) Variation Uncertain significance 14353 GRCh37:
GRCh38:
41 CACNB4 NM_000726.4(CACNB4):c.1509T>C (p.His503=) SNV Uncertain significance 411154 rs1060503173 GRCh37: 2:152695687-152695687
GRCh38: 2:151839173-151839173
42 CACNA1H NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg) SNV Uncertain significance 460088 rs772258959 GRCh37: 16:1259227-1259227
GRCh38: 16:1209227-1209227
43 CACNA1H NM_021098.3(CACNA1H):c.4929+5G>A SNV Uncertain significance 460133 rs1054400971 GRCh37: 16:1263936-1263936
GRCh38: 16:1213936-1213936
44 CACNA1H NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys) SNV Uncertain significance 460093 rs778684497 GRCh37: 16:1259317-1259317
GRCh38: 16:1209317-1209317
45 CACNA1H NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr) SNV Uncertain significance 460165 rs1225788473 GRCh37: 16:1270290-1270290
GRCh38: 16:1220290-1220290
46 CACNA1H NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser) SNV Uncertain significance 460177 rs375586314 GRCh37: 16:1270680-1270680
GRCh38: 16:1220680-1220680
47 CACNA1H NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) SNV Uncertain significance 460171 rs538538654 GRCh37: 16:1270497-1270497
GRCh38: 16:1220497-1220497
48 CACNA1H NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys) SNV Uncertain significance 460136 rs771932368 GRCh37: 16:1265062-1265062
GRCh38: 16:1215062-1215062
49 CACNA1H NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) SNV Uncertain significance 460070 rs748252386 GRCh37: 16:1256205-1256205
GRCh38: 16:1206205-1206205
50 RBFOX1 NM_018723.4(RBFOX1):c.28-185100A>G SNV Uncertain significance 460032 rs779418628 GRCh37: 16:7383048-7383048
GRCh38: 16:7333047-7333047

Copy number variations for Epilepsy, Idiopathic Generalized from CNVD:

7 (show all 43)
# CNVD ID Chromosome 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 FAN1 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
11.59 SCN1A KCNQ3 KCNQ2
2 10.9 KCNQ3 KCNQ2 CACNA1H
3
Show member pathways
10.51 GABRG2 GABRA1
4 10.39 GABRG2 GABRA1
5 10.28 SCN1A KCNQ3 KCNQ2

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 GABA-A receptor complex GO:1902711 9.26 GABRG2 GABRA1
2 voltage-gated sodium channel complex GO:0001518 9.16 SCN1A CACNA1H
3 axon initial segment GO:0043194 9.13 SCN1A KCNQ3 KCNQ2
4 node of Ranvier GO:0033268 8.8 SCN1A KCNQ3 KCNQ2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.73 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1 CACNA1H
2 chemical synaptic transmission GO:0007268 9.67 KCNQ3 KCNQ2 GABRG2 GABRA1
3 neuronal action potential GO:0019228 9.49 SCN1A CACNA1H
4 gamma-aminobutyric acid signaling pathway GO:0007214 9.48 GABRG2 GABRA1
5 membrane depolarization during action potential GO:0086010 9.46 SCN1A CACNA1H
6 regulation of ion transmembrane transport GO:0034765 9.46 SCN1A KCNQ3 KCNQ2 CACNA1H
7 synaptic transmission, GABAergic GO:0051932 9.43 GABRG2 GABRA1
8 inhibitory synapse assembly GO:1904862 9.4 GABRG2 GABRA1
9 cellular response to histamine GO:0071420 9.32 GABRG2 GABRA1
10 regulation of membrane potential GO:0042391 9.26 SCN1A GABRG2 GABRA1 CACNA1H
11 ion transmembrane transport GO:0034220 9.1 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1 CACNA1H

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel activity GO:0005248 9.4 SCN1A CACNA1H
2 GABA-A receptor activity GO:0004890 9.37 GABRG2 GABRA1
3 GABA-gated chloride ion channel activity GO:0022851 9.32 GABRG2 GABRA1
4 benzodiazepine receptor activity GO:0008503 9.26 GABRG2 GABRA1
5 voltage-gated ion channel activity GO:0005244 9.26 SCN1A KCNQ3 KCNQ2 CACNA1H
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.16 GABRG2 GABRA1
7 ion channel activity GO:0005216 9.1 SCN1A KCNQ3 KCNQ2 GABRG2 GABRA1 CACNA1H

Sources for Epilepsy, Idiopathic Generalized

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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