MCID: IDP010
MIFTS: 61

Idiopathic Generalized Epilepsy malady

Categories: Neuronal diseases, Genetic diseases

Aliases & Classifications for Idiopathic Generalized Epilepsy

Aliases & Descriptions for Idiopathic Generalized Epilepsy:

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

Characteristics:

HPO:

32
idiopathic generalized epilepsy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1827
MeSH 42 D004829
NCIt 47 C3021
UMLS 69 C0014548

Summaries for Idiopathic Generalized Epilepsy

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

MalaCards based summary : Idiopathic Generalized Epilepsy, also known as epilepsy, generalized, is related to epilepsy, generalized, with febrile seizures plus, type 5 and epilepsy, generalized, with febrile seizures plus, type 2, and has symptoms including generalized myoclonic seizures, generalized tonic-clonic seizures and absence seizures. An important gene associated with Idiopathic Generalized Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Sweet Taste Signaling and Transmission across Chemical Synapses. The drugs Topiramate and Clonazepam have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Wikipedia : 71 Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a... more...

Related Diseases for Idiopathic Generalized Epilepsy

Diseases in the Idiopathic Generalized Epilepsy family:

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

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 epilepsy, generalized, with febrile seizures plus, type 5 30.9 CACNB4 CHRNA4 CLCN2 EFHC1 GABRA1 GABRB3
2 epilepsy, generalized, with febrile seizures plus, type 2 12.0
3 epilepsy, generalized, with febrile seizures plus, type 3 12.0
4 epilepsy, idiopathic generalized 9 11.7
5 epilepsy, idiopathic generalized 11 11.6
6 epilepsy, childhood absence 6 11.6
7 childhood absence epilepsy 11.2
8 jeavons syndrome 11.2
9 epilepsy, juvenile myoclonic 5 11.1
10 epilepsy, idiopathic generalized, suscpetibility to, 12 11.1
11 epilepsy idiopathic generalized 8 11.1
12 myoclonic epilepsy, juvenile 1 11.0
13 epilepsy 10.9
14 generalized epilepsy with febrile seizures plus 10.8
15 epilepsy, idiopathic generalized 14 10.8
16 epilepsy, childhood absence 2 10.8
17 photoparoxysmal response 1 10.8
18 epilepsy, juvenile absence 1 10.8
19 epilepsy, childhood absence 5 10.8
20 epileptic encephalopathy, childhood-onset 10.8
21 autoimmune thyroid disease 1 10.2 CACNB4 EFHC1
22 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.1 GABRG2 SCN1A
23 adult brain ependymoma 10.1 EFHC1 SCN1A
24 mental retardation, autosomal recessive 38 10.1 CLCN2 SLC12A5
25 familial hemiplegic migraine 10.0 CACNA1H CLCN2 EFHC1 GABRA1
26 atrial fibrillation, familial, 13 10.0 SCN1A SCN1B
27 epilepsy with generalized tonic-clonic seizures 10.0
28 marek disease 10.0 SCN1A SLC12A5
29 syne1-related autosomal recessive cerebellar ataxia 10.0 SCN1A SCN1B
30 cerebritis 10.0
31 neuronitis 10.0
32 epidermolysis bullosa simplex, ogna type 9.9 KCNQ2 KCNQ3
33 mbd5 haploinsufficiency 9.9 KCNQ2 KCNQ3
34 syphilitic spinal sclerosis 9.9 KCNQ2 SCN1A
35 osteitis fibrosa 9.9 GABRG2 KCNQ3
36 gingivitis 9.9 GABRG2 SCN1A SCN1B
37 status epilepticus 9.9
38 spondylosis 9.9 CHRNA4 GABRD GABRG2 SCN1A
39 suppurative cholangitis 9.9 KCNQ2 KCNQ3
40 temporal lobe epilepsy 9.9
41 myoclonus 9.9
42 wagro syndrome 9.8 GABRG2 KCNQ2 KCNQ3
43 adolescence-adult electroclinical syndrome 9.8 KCNQ2 KCNQ3 SCN1A
44 myoclonus epilepsy 9.8
45 autosomal recessive nonsyndromic deafness 9.8 GABRA1 GABRB3 GABRG2 KCNQ2 SCN1A
46 early onset absence epilepsy 9.8 GABRG2 KCNQ2 SCN1A SCN1B
47 gingival disease 9.7 KCNQ2 KCNQ3
48 ataxia 9.6
49 apraxia 9.6
50 febrile seizures 9.6

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



Diseases related to Idiopathic Generalized Epilepsy

Symptoms & Phenotypes for Idiopathic Generalized Epilepsy

Human phenotypes related to Idiopathic Generalized Epilepsy:

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

UMLS symptoms related to Idiopathic Generalized Epilepsy:


seizures, non-epileptic convulsion

GenomeRNAi Phenotypes related to Idiopathic Generalized Epilepsy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.05 SLC12A5 EFHC1 KCNJ10 ME2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.05 ME2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.05 SLC12A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.05 SLC12A5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.05 EFHC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.05 EFHC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.05 SLC12A5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.05 KCNJ10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.05 SLC12A5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.05 SLC12A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.05 EFHC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.05 SLC12A5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.05 KCNJ10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.05 ME2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.05 SLC12A5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.05 EFHC1 ME2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.05 EFHC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.05 EFHC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.05 ME2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.05 ME2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.05 ME2
22 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 CACNB4 CLCN2 EFHC1 GABRA1 KCNQ2 SCN1A

MGI Mouse Phenotypes related to Idiopathic Generalized Epilepsy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 CACNA1H CACNB4 CHRNA4 CLCN2 EFHC1 GABRA1
2 growth/size/body region MP:0005378 10.06 GABRB3 GABRG2 CACNA1H CACNB4 GABRA1 KCNJ10
3 mortality/aging MP:0010768 9.93 CACNB4 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
4 nervous system MP:0003631 9.83 KCNQ2 KCNQ3 SCN1A SCN1B SLC12A5 CACNA1H
5 hearing/vestibular/ear MP:0005377 9.73 CACNB4 GABRA1 GABRB3 GABRD KCNJ10 SLC12A5
6 reproductive system MP:0005389 9.28 CACNB4 CLCN2 GABRA1 GABRB3 GABRD GABRG2

Drugs & Therapeutics for Idiopathic Generalized Epilepsy

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

(show top 50) (show all 281)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1 97240-79-4 5284627
2
Clonazepam Approved, Illicit Phase 4,Phase 3 1622-61-3 2802
3
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2 99-66-1 3121
4
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 2 298-46-4 2554
5 Piracetam Approved Phase 4,Phase 3,Phase 2 7491-74-9
6
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 84057-84-1 3878
7
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
8
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 2078-54-8 4943
9
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
10
Oxcarbazepine Approved Phase 4,Phase 2,Phase 3 28721-07-5 34312
11
Citalopram Approved Phase 4 59729-33-8 2771
12
Clevidipine Approved Phase 4 167221-71-8
13
Hydralazine Approved Phase 4 86-54-4 3637
14
Labetalol Approved Phase 4 36894-69-6 3869
15
Tiagabine Approved Phase 4 115103-54-3 60648
16
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
17
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
18
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
19
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
20
Eslicarbazepine acetate Approved Phase 4,Phase 3 75970-99-9, 236395-14-5 123618
21
Sertraline Approved Phase 4 79617-96-2 68617
22
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
23
Vigabatrin Approved Phase 4,Phase 3 68506-86-5, 60643-86-9 5665
24
Butyric Acid Experimental Phase 4 107-92-6 264
25 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Anti-Obesity Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Neuroprotective Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Antimanic Agents Phase 4,Phase 3,Phase 2
30 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
31 GABA Agents Phase 4,Phase 3,Phase 2,Phase 1
32 GABA Modulators Phase 4,Phase 3,Phase 2,Phase 1
33 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
35 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Analgesics Phase 4,Phase 3,Phase 2
37 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
38 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2,Phase 1
39 Etiracetam Phase 4,Phase 3,Phase 2
40 Nootropic Agents Phase 4,Phase 3,Phase 2
41 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
42 calcium channel blockers Phase 4,Phase 3,Phase 2,Phase 1
43 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
44 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
45 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
46 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
47 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
48 Antiparkinson Agents Phase 4,Phase 2
49 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 382)
id Name Status NCT ID Phase
1 Topiramate Treatment for Patients With Epilepsy and Learning Disability : A Prospective Observational Study Unknown status NCT00956696 Phase 4
2 The Benefit of Prophylactic Anticonvulsant in Post Cardiac Arrest Syndrome With Induced Mild Hypothermia Unknown status NCT01083784 Phase 4
3 A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy Completed NCT00266604 Phase 4
4 The Effects on Cognitive Function of Levetiracetam (Keppra®) Compared to Carbamazepine (Tegretol®, Carmazepine®) as Monotherapy for Children With Partial Seizure; A Multicentric Randomized Controlled Study Completed NCT02208492 Phase 4
5 Treatment Of Primary Generalized Tonic-Clonic Seizures With An Investigational New Drug Completed NCT00043901 Phase 4
6 Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery Completed NCT00571155 Phase 4
7 Levetiracetam Versus Oxcarbazepine as Monotherapy to Evaluate Efficacy and Safety in Subjects With Newly or Recently Diagnosed Partial Epilepsy Completed NCT01498822 Phase 4
8 Escitalopram Treatment of Major Depression in Patients With Temporal Lobe Epilepsy Completed NCT00595699 Phase 4
9 A Study to Assess Tolerability and Efficacy of Topiramate Monotherapy in Recently Diagnosed Patients With Epilepsy Completed NCT01689649 Phase 4
10 A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients Completed NCT00952081 Phase 4
11 Switching From an SSRI to Tiagabine(GABITRIL) in Order to Alleviate SSRI Induced Sexual Dysfunction Completed NCT00174850 Phase 4
12 Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy Completed NCT00323947 Phase 4
13 UCB Antiepileptic Drugs (AED) Pregnancy Registry (Formerly the Keppra® Pregnancy Registry) Completed NCT00345475 Phase 4
14 Non-Interventional Study With LYRICA (Pregabalin) In Patients With Epilepsy As Adjunctive Therapy Of Partial Seizures To Reduce Seizure Frequency Completed NCT00684424 Phase 4
15 A Study to Evaluate the Safety and Efficacy of Zonisamide an Antiepileptic Drug as Monotherapy or Adjunctive Therapy in Treatment of Adult Patients With Partial, Generalized or Combined Seizures. Completed NCT01283256 Phase 4
16 A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice Completed NCT00855738 Phase 4
17 Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). Completed NCT00288639 Phase 4
18 Safety and Efficacy of Eslicarbazepine Acetate as Adjunctive Therapy for Partial Seizures in Elderly Patients Completed NCT01422720 Phase 4
19 Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation Completed NCT01127256 Phase 4
20 Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures Completed NCT00537940 Phase 4
21 Open Label, Zonegran (Zonisamide) In Partial Onset Seizures Completed NCT00215592 Phase 4
22 Treatments for Psychogenic Nonepileptic Seizures (NES) Completed NCT00159965 Phase 4
23 Trial Evaluating the Efficacy and Safety of Perampanel Added to Monotherapy in Participants With Partial Onset Seizures Recruiting NCT02726074 Phase 4
24 Evaluation of Neuroinflammation in Children With Infantile Spasms Recruiting NCT02092883 Phase 4
25 Vision Testing in Patients With Partial Seizures Receiving Either Lyrica or Placebo Recruiting NCT00351611 Phase 4
26 A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging Recruiting NCT02633241 Phase 4
27 Efficacy and Safety of Intramuscular Midazolam Compared to Buccal Midazolam in Pediatric Seizures Recruiting NCT02897856 Phase 4
28 A Study to Evaluate the Potential Increased Risk of Seizures Among Metastatic Castration-Resistant Prostate Cancer (mCRPC) Patients Treated With Enzalutamide Active, not recruiting NCT01977651 Phase 4
29 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Active, not recruiting NCT02645279 Phase 4
30 Does Pregabalin Improve Symptoms of Anxiety in Patients With Epilepsy? A Comparison With Sertraline Terminated NCT01309074 Phase 4
31 Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients Terminated NCT00522418 Phase 4
32 Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures Terminated NCT01118455 Phase 4
33 Pregabalin In Partial Seizures (PREPS): An Open-Label, Multicenter Add On Therapy Trial Terminated NCT00407797 Phase 4
34 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4
35 Addition of Pyridoxine to Prednisolone in Infantile Spasms Unknown status NCT01828437 Phase 3
36 Efficacy Study of Folic Acid Supplementation in Adolescent Epileptics Unknown status NCT02318446 Phase 3
37 Ketamine in Refractory Convulsive Status Epilepticus Unknown status NCT02431663 Phase 3
38 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
39 Long Term Follow up Treatment With Levetiracetam in Subjects of 4 Years and Older With Generalized Epilepsy Completed NCT00150748 Phase 3
40 Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + Adults Completed NCT00150774 Phase 3
41 Monotherapy With Levetiracetam in Newly Diagnosed Patients Suffering From Epilepsy Completed NCT00150735 Phase 3
42 Clobazam in Patients With Lennox-Gastaut Syndrome Completed NCT00518713 Phase 3
43 Prospective Pilot Study on Metabolism and Weight Changes in Topiramate-Treated Epilepsy Patients Completed NCT00236886 Phase 3
44 Brivaracetam as add-on Treatment in Adolescents and Adults Suffering From Epilepsy Completed NCT00504881 Phase 3
45 A Study on Safety and Efficacy of Two Doses of Topiramate as Monotherapy in the Treatment of Newly Diagnosed or Recurrent Epilepsy Completed NCT00231556 Phase 3
46 Efficacy and Safety of Diazepam in the Management of Refractory Epilepsy in Selected Patients Who Require Intermittent Medical Intervention for Acute Repetitive Seizures. Completed NCT00319501 Phase 3
47 Monotherapy With Levetiracetam in Patients Suffering From Epilepsy. Completed NCT00150813 Phase 3
48 Monotherapy With Levetiracetam or Carbamazepine in Patients Suffering From Epilepsy. Completed NCT00150787 Phase 3
49 Study Evaluating LAMICTAL Extended-Release Therapy Added To Current Seizure Treatments In Patients With Primary Generalized Tonic-Clonic Seizures (PGTC) Seizures Completed NCT00104416 Phase 3
50 A Double-blind, Placebo-controlled Study of Levetiracetam in Epilepsy Patients With Generalized Tonic-clonic Seizures (Except Partial Seizures Evolving to Secondarily Generalized Seizures) Completed NCT01228747 Phase 3

Search NIH Clinical Center for Idiopathic Generalized Epilepsy

Cochrane evidence based reviews: epilepsy, generalized

Genetic Tests for Idiopathic Generalized Epilepsy

Genetic tests related to Idiopathic Generalized Epilepsy:

id Genetic test Affiliating Genes
1 Idiopathic Generalized Epilepsy 29

Anatomical Context for Idiopathic Generalized Epilepsy

MalaCards organs/tissues related to Idiopathic Generalized Epilepsy:

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

Publications for Idiopathic Generalized Epilepsy

Articles related to Idiopathic Generalized Epilepsy:

(show top 50) (show all 306)
id Title Authors Year
1
Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic-clonic seizure. ( 27726245 )
2017
2
Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies. ( 28060866 )
2017
3
Effects of Marijuana on Ictal and Interictal EEG Activities in Idiopathic Generalized Epilepsy. ( 27763968 )
2017
4
Perampanel: Another Choice for Patients With Idiopathic Generalized Epilepsy Who Have Tonic-Clonic Seizures. ( 26900373 )
2016
5
A computational biomarker of idiopathic generalized epilepsy from resting state EEG. ( 27501083 )
2016
6
Moral judgment in patients with idiopathic generalized epilepsy. ( 27567267 )
2016
7
Perampanel for the treatment of primary generalized tonic-clonic seizures in idiopathic generalized epilepsy. ( 27267634 )
2016
8
Neocortical gamma oscillations in idiopathic generalized epilepsy. ( 26996827 )
2016
9
Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion-Semicurve findings in adult patients. ( 27344501 )
2016
10
Thalamic hypoperfusion and disrupted cerebral blood flow networks in idiopathic generalized epilepsy: Arterial spin labeling and graph theoretical analysis. ( 28043066 )
2016
11
A diffusional kurtosis imaging study of idiopathic generalized epilepsy with unilateral interictal epileptiform discharges in children. ( 27269387 )
2016
12
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
13
Patterns of postictal cerebral perfusion in idiopathic generalized epilepsy: a multi-delay multi-parametric arterial spin labelling perfusion MRI study. ( 27374369 )
2016
14
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
15
Focal interictal epileptiform discharges in idiopathic generalized epilepsy. ( 26956566 )
2016
16
Ethnic variation of genetic (idiopathic) generalized epilepsy in Malaysia. ( 27912112 )
2016
17
Altered Effective Connectivity among Core Neurocognitive Networks in Idiopathic Generalized Epilepsy: An fMRI Evidence. ( 27656137 )
2016
18
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
19
Cognitive Profile of Zonisamide and Valproic Acid in the Treatment of Idiopathic Generalized Epilepsy: A Comparative Observational Study. ( 27086007 )
2016
20
No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy. ( 26958022 )
2015
21
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 26438619 )
2015
22
Investigation of the cingulate cortex in idiopathic generalized epilepsy. ( 26417846 )
2015
23
Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy: A randomized trial. ( 26296511 )
2015
24
Identifying Corticothalamic Network Epicenters in Patients with Idiopathic Generalized Epilepsy. ( 25907518 )
2015
25
Altered functional connectivity among default, attention, and control networks in idiopathic generalized epilepsy. ( 25935514 )
2015
26
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent. ( 25893123 )
2015
27
Motor evoked potential polyphasia: A novel endophenotype of idiopathic generalized epilepsy. ( 25740859 )
2015
28
Selective EEG activation by the Stroop test in idiopathic generalized epilepsy. ( 25735886 )
2015
29
Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases. ( 26156948 )
2015
30
Frequency-Specific Alterations of Local Synchronization in Idiopathic Generalized Epilepsy. ( 26266394 )
2015
31
A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy. ( 26588588 )
2015
32
Determination of haptoglobin genotype in an Iranian population with idiopathic generalized epilepsy. ( 26989737 )
2015
33
Choice of Antiepileptic Drugs in Idiopathic Generalized Epilepsy: UAE Experience. ( 26078878 )
2015
34
Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy. ( 25088614 )
2014
35
MRI segmentation analysis in temporal lobe and idiopathic generalized epilepsy. ( 24938118 )
2014
36
Idiopathic-generalized epilepsy shows profound white matter diffusion-tensor imaging alterations. ( 25050427 )
2014
37
Diffusional kurtosis imaging reveals a distinctive pattern of microstructural alternations in idiopathic generalized epilepsy. ( 24796428 )
2014
38
Microstructural brain abnormalities of children of idiopathic generalized epilepsy with generalized tonic-clonic seizure: A voxel-based diffusional kurtosis imaging study. ( 24797060 )
2014
39
Increased interhemispheric resting-state in idiopathic generalized epilepsy with generalized tonic-clonic seizures: a resting-state fMRI study. ( 25043752 )
2014
40
Valproate treatment normalizes EEG functional connectivity in successfully treated idiopathic generalized epilepsy patients. ( 25454501 )
2014
41
Altered thalamocortical functional connectivity in idiopathic generalized epilepsy. ( 24650142 )
2014
42
Empathy and emotion recognition in patients with idiopathic generalized epilepsy. ( 25022822 )
2014
43
Genetic variants of synaptic vesicle and presynaptic plasma membrane proteins in idiopathic generalized epilepsy. ( 24164654 )
2014
44
EEG activation by neuropsychological tasks in idiopathic generalized epilepsy of adolescence. ( 25043766 )
2014
45
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
46
Natural course and predictors of spontaneous seizure remission in idiopathic generalized epilepsy: 7-27 years of follow-up. ( 24907182 )
2014
47
Recognition of facial emotions and identity in patients with mesial temporal lobe and idiopathic generalized epilepsy: An eye-tracking study. ( 25277844 )
2014
48
Investigation of glutamine and GABA levels in patients with idiopathic generalized epilepsy using MEGAPRESS. ( 24585443 )
2014
49
Functional neuroimaging abnormalities in idiopathic generalized epilepsy. ( 25383319 )
2014
50
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. ( 24561070 )
2014

Variations for Idiopathic Generalized Epilepsy

ClinVar genetic disease variations for Idiopathic Generalized Epilepsy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
2 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh37 Chromosome 8, 38111160: 38111160
3 SCN1A NM_006920.4(SCN1A): c.1876A> G (p.Ser626Gly) single nucleotide variant Pathogenic rs121917990 GRCh37 Chromosome 2, 166900346: 166900346
4 POLG NM_002693.2(POLG): c.1270_1271delCT (p.Leu424Glyfs) deletion Pathogenic rs796052908 GRCh38 Chromosome 15, 89327329: 89327330

Copy number variations for Idiopathic Generalized Epilepsy from CNVD:

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

Expression for Idiopathic Generalized Epilepsy

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

Pathways for Idiopathic Generalized Epilepsy

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

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 CACNA1H CACNB4 GABRA1 GABRB3 GABRD GABRG2
2
Show member pathways
12.71 CACNB4 CHRNA4 GABRA1 GABRB3 GABRG2 KCNJ10
3
Show member pathways
12.56 CACNA1H CHRNA4 KCNQ2 KCNQ3 SCN1A
4 12.37 KCNQ2 SCN1A SCN1B SLC12A5
5
Show member pathways
12.35 GABRA1 GABRB3 GABRD GABRG2 SLC12A5
6
Show member pathways
12.34 CLCN2 GABRA1 GABRB3 GABRG2
7
Show member pathways
12.26 GABRA1 GABRB3 GABRD GABRG2
8 12.17 CACNB4 KCNJ10 KCNQ2 KCNQ3
9
Show member pathways
11.92 KCNJ10 KCNQ2 KCNQ3
10
Show member pathways
11.84 GABRA1 GABRB3 GABRG2 KCNJ10
11
Show member pathways
11.77 KCNQ2 KCNQ3 SCN1A SCN1B
12
Show member pathways
11.58 CACNB4 SCN1A SCN1B
13 11.39 CACNA1H CACNB4 KCNQ2 KCNQ3
14
Show member pathways
11.26 GABRA1 GABRB3 GABRG2
15 10.93 KCNQ2 KCNQ3 SCN1A SCN1B
16
Show member pathways
10.82 GABRA1 GABRG2
17 10.62 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
18 10.49 GABRA1 GABRB3 GABRD GABRG2

GO Terms for Idiopathic Generalized Epilepsy

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.92 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
2 synapse GO:0045202 9.85 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
3 neuronal cell body GO:0043025 9.8 CHRNA4 EFHC1 SCN1A SLC12A5
4 postsynaptic membrane GO:0045211 9.77 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
5 cytoplasmic vesicle membrane GO:0030659 9.71 GABRA1 GABRB3 GABRG2
6 voltage-gated calcium channel complex GO:0005891 9.55 CACNA1H CACNB4
7 axon initial segment GO:0043194 9.5 KCNQ2 KCNQ3 SCN1A
8 voltage-gated sodium channel complex GO:0001518 9.48 SCN1A SCN1B
9 GABA-A receptor complex GO:1902711 9.46 GABRA1 GABRB3 GABRD GABRG2
10 sodium channel complex GO:0034706 9.43 SCN1A SCN1B
11 node of Ranvier GO:0033268 9.26 KCNQ2 KCNQ3 SCN1A SCN1B
12 chloride channel complex GO:0034707 9.02 CLCN2 GABRA1 GABRB3 GABRD GABRG2
13 membrane GO:0016020 10.32 CACNA1H CHRNA4 CLCN2 GABRA1 GABRB3 GABRD
14 integral component of membrane GO:0016021 10.22 CACNA1H CHRNA4 CLCN2 GABRA1 GABRB3 GABRD
15 plasma membrane GO:0005886 10.1 CACNA1H CACNB4 CHRNA4 CLCN2 GABRA1 GABRB3
16 integral component of plasma membrane GO:0005887 10.03 GABRA1 GABRB3 GABRD GABRG2 KCNJ10 SLC12A5

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

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.92 CACNB4 CHRNA4 GABRD GABRG2 KCNQ2 KCNQ3
2 chloride transmembrane transport GO:1902476 9.88 CLCN2 GABRA1 GABRB3 GABRD GABRG2 SLC12A5
3 regulation of ion transmembrane transport GO:0034765 9.86 CACNA1H CACNB4 CLCN2 KCNJ10 KCNQ2 KCNQ3
4 potassium ion transport GO:0006813 9.85 KCNJ10 KCNQ2 KCNQ3 SLC12A5
5 chloride transport GO:0006821 9.85 CLCN2 GABRA1 GABRB3 GABRD GABRG2 SLC12A5
6 potassium ion transmembrane transport GO:0071805 9.84 KCNJ10 KCNQ2 KCNQ3 SLC12A5
7 regulation of postsynaptic membrane potential GO:0060078 9.83 CACNA1H CHRNA4 GABRA1 SCN1A SCN1B
8 regulation of membrane potential GO:0042391 9.78 CACNA1H CHRNA4 KCNJ10 SCN1A
9 calcium ion transport GO:0006816 9.77 CACNA1H CACNB4 CHRNA4
10 sodium ion transmembrane transport GO:0035725 9.76 CACNA1H SCN1A SCN1B
11 membrane depolarization GO:0051899 9.69 CACNB4 CHRNA4 SCN1B
12 gamma-aminobutyric acid signaling pathway GO:0007214 9.67 GABRA1 GABRB3 GABRG2
13 cellular response to histamine GO:0071420 9.63 GABRA1 GABRB3 GABRG2
14 adult walking behavior GO:0007628 9.62 KCNJ10 SCN1A
15 neuronal action potential GO:0019228 9.61 CACNA1H SCN1A
16 membrane depolarization during action potential GO:0086010 9.61 CACNA1H SCN1A
17 ion transmembrane transport GO:0034220 9.61 CACNA1H CHRNA4 CLCN2 GABRA1 GABRB3 GABRD
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.59 SCN1A SCN1B
19 inhibitory postsynaptic potential GO:0060080 9.58 CHRNA4 GABRB3
20 neuronal action potential propagation GO:0019227 9.57 SCN1A SCN1B
21 synaptic transmission, GABAergic GO:0051932 9.56 GABRA1 GABRG2
22 ion transport GO:0006811 9.47 CACNA1H CACNB4 CHRNA4 CLCN2 GABRA1 GABRB3
23 transmembrane transport GO:0055085 10 CACNA1H CLCN2 KCNQ2 KCNQ3 SCN1A SLC12A5
24 transport GO:0006810 10 CACNA1H CACNB4 CHRNA4 CLCN2 GABRA1 GABRB3

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

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.67 CHRNA4 GABRA1 GABRB3 SCN1A
2 chloride channel activity GO:0005254 9.65 CLCN2 GABRA1 GABRB3 GABRD GABRG2
3 potassium channel activity GO:0005267 9.61 KCNJ10 KCNQ2 KCNQ3
4 voltage-gated sodium channel activity GO:0005248 9.5 CACNA1H SCN1A SCN1B
5 sodium channel activity GO:0005272 9.46 SCN1A SCN1B
6 GABA-A receptor activity GO:0004890 9.46 GABRA1 GABRB3 GABRD GABRG2
7 GABA-gated chloride ion channel activity GO:0022851 9.4 GABRA1 GABRB3
8 extracellular ligand-gated ion channel activity GO:0005230 9.35 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
9 voltage-gated ion channel activity GO:0005244 9.17 CACNA1H CLCN2 KCNJ10 KCNQ2 KCNQ3 SCN1A

Sources for Idiopathic Generalized Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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