MCID: EPL001
MIFTS: 37

Epilepsy with Generalized Tonic-Clonic Seizures

Categories: Neuronal diseases

Aliases & Classifications for Epilepsy with Generalized Tonic-Clonic Seizures

MalaCards integrated aliases for Epilepsy with Generalized Tonic-Clonic Seizures:

Name: Epilepsy with Generalized Tonic-Clonic Seizures 12 15 17
Tonic-Clonic Epilepsy 12 74
Epileptic Seizures, Tonic-Clonic 12
Epilepsy, Tonic-Clonic 45
Grand Mal Epilepsy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:7725
MeSH 45 D004830
NCIt 51 C3022
UMLS 74 C0014549

Summaries for Epilepsy with Generalized Tonic-Clonic Seizures

Disease Ontology : 12 An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.

MalaCards based summary : Epilepsy with Generalized Tonic-Clonic Seizures, also known as tonic-clonic epilepsy, is related to epileptic encephalopathy, early infantile, 6 and seizure disorder, and has symptoms including seizures and non-epileptic convulsion. An important gene associated with Epilepsy with Generalized Tonic-Clonic Seizures is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and L1CAM interactions. The drugs Lidocaine and Levetiracetam have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Epilepsy with Generalized Tonic-Clonic Seizures

Diseases related to Epilepsy with Generalized Tonic-Clonic Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 33.3 SCN1A SCN2A
2 seizure disorder 30.6 SCN1A SCN2A
3 epilepsy, idiopathic generalized 30.2 CACNA1H EFHC1 SCN1A SCN2A
4 focal epilepsy 29.8 CACNA1H SCN1A SCN2A
5 epilepsy 29.8 CACNA1H CSTB EFHC1 SCN1A SCN2A
6 scn1a-related seizure disorders 11.4
7 photosensitive epilepsy 10.3
8 depression 10.2
9 malignant migrating partial seizures of infancy 10.1 SCN1A SCN2A
10 seizures, benign familial infantile, 3 10.1 SCN1A SCN2A
11 infancy electroclinical syndrome 10.1 SCN1A SCN2A
12 neonatal period electroclinical syndrome 10.1 SCN1A SCN2A
13 tardive dyskinesia 10.1
14 aarskog-scott syndrome 10.1
15 scoliosis 10.1
16 sparganosis 10.1
17 long qt syndrome 10.1
18 generalized epilepsy with febrile seizures plus 10.0 SCN1A SCN2A
19 early myoclonic encephalopathy 10.0 CSTB SCN1A
20 visual epilepsy 10.0 SCN1A SCN2A
21 west syndrome 9.9 SCN1A SCN2A
22 benign epilepsy with centrotemporal spikes 9.9 CSTB SCN2A
23 juvenile absence epilepsy 9.8 CACNA1H EFHC1
24 childhood electroclinical syndrome 9.8 CACNA1H EFHC1
25 unverricht-lundborg syndrome 9.8 CSTB EFHC1
26 early infantile epileptic encephalopathy 9.8 SCN1A SCN2A
27 childhood absence epilepsy 9.7 CACNA1H EFHC1
28 adolescence-adult electroclinical syndrome 9.3 CACNA1H CSTB EFHC1 SCN1A
29 epilepsy, idiopathic generalized 10 9.0 CSTB EFHC1 PAQR8 SCN1A SCN2A

Graphical network of the top 20 diseases related to Epilepsy with Generalized Tonic-Clonic Seizures:



Diseases related to Epilepsy with Generalized Tonic-Clonic Seizures

Symptoms & Phenotypes for Epilepsy with Generalized Tonic-Clonic Seizures

UMLS symptoms related to Epilepsy with Generalized Tonic-Clonic Seizures:


seizures, non-epileptic convulsion

GenomeRNAi Phenotypes related to Epilepsy with Generalized Tonic-Clonic Seizures according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.65 CSTB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.65 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.65 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.65 PAQR8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.65 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.65 PAQR8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.65 CSTB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.65 PAQR8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.65 CSTB PAQR8
10 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 CSTB EFHC1 SCN1A SCN2A

MGI Mouse Phenotypes related to Epilepsy with Generalized Tonic-Clonic Seizures:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 CACNA1H CSTB EFHC1 SCN1A SCN2A
2 nervous system MP:0003631 9.02 CACNA1H CSTB EFHC1 SCN1A SCN2A

Drugs & Therapeutics for Epilepsy with Generalized Tonic-Clonic Seizures

Drugs for Epilepsy with Generalized Tonic-Clonic Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Levetiracetam Approved, Investigational Phase 4,Phase 2 102767-28-2 441341
3
Fosphenytoin Approved, Investigational Phase 4 93390-81-9 56339
4
Phenytoin Approved, Vet_approved Phase 4,Phase 3 57-41-0 1775
5 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
6 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
7 Anti-Arrhythmia Agents Phase 4,Not Applicable
8 Pharmaceutical Solutions Phase 4
9 Analgesics Phase 4,Phase 3,Not Applicable
10 Anesthetics Phase 4,Not Applicable
11 Sodium Channel Blockers Phase 4,Phase 3
12 Diuretics, Potassium Sparing Phase 4,Phase 3
13 Anesthetics, Local Phase 4
14 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
15 Nootropic Agents Phase 4,Phase 2
16
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
17
Valproic Acid Approved, Investigational Phase 3,Phase 2 99-66-1 3121
18
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
19
Topiramate Approved Phase 3 97240-79-4 5284627
20
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
21
Calcium Approved, Nutraceutical Phase 3,Not Applicable 7440-70-2 271
22 Hormones Phase 3,Not Applicable
23 calcium channel blockers Phase 3,Not Applicable
24 Anti-Anxiety Agents Phase 3
25 Tranquilizing Agents Phase 3,Phase 2
26 Calcium, Dietary Phase 3,Not Applicable
27 Psychotropic Drugs Phase 3,Phase 2
28 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
29 GABA Agents Phase 3,Phase 2
30 Antimanic Agents Phase 3,Phase 2
31 Hypoglycemic Agents Phase 3
32 Antipsychotic Agents Phase 3
33
Magnesium Sulfate Approved, Investigational, Vet_approved Not Applicable 7487-88-9 24083
34
Methyldopa Approved Not Applicable 555-30-6 38853
35 Adrenergic alpha-2 Receptor Agonists Not Applicable
36 Antihypertensive Agents Not Applicable
37 Adrenergic alpha-Agonists Not Applicable
38 Adrenergic Agents Not Applicable
39 Tocolytic Agents Not Applicable
40 Adrenergic Agonists Not Applicable
41 Sympatholytics Not Applicable
42 Autonomic Agents Not Applicable

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Multimodal Analgesic Technique for Control of Post-laproscopy Abdominal Pain Completed NCT03241602 Phase 4 Intraperitoneal lidocaine
2 IV Keppra in the Emergency Department for Prevention of Early Recurrent Seizures Completed NCT00510783 Phase 4 Keppra;Fosphenytoin;Dilantin
3 A Safety, Efficacy and Tolerability Trial of Pregabalin as Add-On Treatment in Pediatric and Adult Subjects With Primary Generalized Tonic-Clonic (i.e., Grand Mal) Seizures. Completed NCT01747915 Phase 3 Pregabalin Dose Level 1;Pregabalin Dose Level 2;Placebo
4 Refractory Status Epilepticus Treatment Study Completed NCT01586208 Phase 3 valproic acid (VPA)
5 Double-blind, Randomized Study Evaluating the Efficacy and Safety of Brivaracetam in Adults With Partial Onset Seizures Completed NCT00464269 Phase 3 Brivaracetam 2.5 mg;Brivaracetam 10 mg;Brivaracetam 25 mg
6 Brivaracetam as add-on Treatment in Adolescents and Adults Suffering From Epilepsy Completed NCT00504881 Phase 3 Placebo;Brivaracetam
7 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 topiramate
8 A Study of the Efficacy and Safety of Topiramate as "Add on" Treatment in Epilepsy Patients With Primary Generalized Tonic-clonic Seizures Completed NCT00236704 Phase 3 topiramate
9 A Study of the Efficacy and Safety of Topiramate in Epilepsy Patients With Primary Generalized Tonic-clonic Seizures Completed NCT00236418 Phase 3 topiramate
10 Clinical Evaluation of BW430C in Epilepsy Completed NCT00395694 Phase 3 lamictal
11 Levetiracetam Versus Sodium Valproate in Children With Refractory Generalized Convulsive Status Epilepticus Completed NCT02920060 Phase 2 Intravenous levetiracetam;Sodium valproate
12 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy Completed NCT01178437 Not Applicable
13 Community Level Interventions for Pre-eclampsia Active, not recruiting NCT01911494 Not Applicable Magnesium Sulfate;Methyldopa
14 Evaluation and Treatment of Patients With Epilepsy Terminated NCT00013845

Search NIH Clinical Center for Epilepsy with Generalized Tonic-Clonic Seizures

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: epilepsy, tonic-clonic

Genetic Tests for Epilepsy with Generalized Tonic-Clonic Seizures

Anatomical Context for Epilepsy with Generalized Tonic-Clonic Seizures

MalaCards organs/tissues related to Epilepsy with Generalized Tonic-Clonic Seizures:

42
Cerebellum

Publications for Epilepsy with Generalized Tonic-Clonic Seizures

Articles related to Epilepsy with Generalized Tonic-Clonic Seizures:

(show all 14)
# Title Authors Year
1
Abnormalities of diffusional kurtosis imaging and regional homogeneity in idiopathic generalized epilepsy with generalized tonic-clonic seizures. ( 30651841 )
2019
2
Anticonvulsant drugs for generalized tonic-clonic epilepsy. ( 28481729 )
2017
3
Valproate in adolescents with photosensitive epilepsy with generalized tonic-clonic seizures only. ( 23891468 )
2014
4
Increased interhemispheric resting-state in idiopathic generalized epilepsy with generalized tonic-clonic seizures: a resting-state fMRI study. ( 25043752 )
2014
5
Unexpected incremental gain from an implantable loop recorder: aiding diagnosis of generalised tonic-clonic epilepsy in a patient with unexplained transient loss of consciousness. ( 27326039 )
2012
6
Cerebellum abnormalities in idiopathic generalized epilepsy with generalized tonic-clonic seizures revealed by diffusion tensor imaging. ( 21203575 )
2010
7
Idiopathic generalized epilepsy with generalized tonic-clonic seizures (IGE-GTC): a population-based cohort with >20 year follow up for medical and social outcome. ( 20471324 )
2010
8
Idiopathic generalized tonic-clonic epilepsy and photosensitivity: a long-term follow-up study. ( 19664099 )
2009
9
Depression rate among 18-40-year-old patients suffering from generalized tonic-clonic epilepsy referred to Neurology Clinics in an Iranian Hospital. ( 21063296 )
2008
10
Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures. ( 17715289 )
2007
11
The source of afterdischarge activity in neocortical tonic-clonic epilepsy. ( 18057209 )
2007
12
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. ( 16210358 )
2005
13
The developmental profiles of children with idiopathic tonic-clonic epilepsy as measured on the Griffiths Mental Development Scales. ( 25864845 )
2003
14
A pharmacoeconomic analysis of the impact of therapeutic drug monitoring in adult patients with generalized tonic-clonic epilepsy. ( 11488777 )
2001

Variations for Epilepsy with Generalized Tonic-Clonic Seizures

Expression for Epilepsy with Generalized Tonic-Clonic Seizures

Search GEO for disease gene expression data for Epilepsy with Generalized Tonic-Clonic Seizures.

Pathways for Epilepsy with Generalized Tonic-Clonic Seizures

Pathways related to Epilepsy with Generalized Tonic-Clonic Seizures according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 CACNA1H SCN1A SCN2A
2
Show member pathways
11.25 SCN1A SCN2A
3
Show member pathways
10.83 SCN1A SCN2A
4 10.1 SCN1A SCN2A

GO Terms for Epilepsy with Generalized Tonic-Clonic Seizures

Cellular components related to Epilepsy with Generalized Tonic-Clonic Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.32 SCN1A SCN2A
2 T-tubule GO:0030315 9.26 SCN1A SCN2A
3 node of Ranvier GO:0033268 9.16 SCN1A SCN2A
4 voltage-gated sodium channel complex GO:0001518 8.96 SCN1A SCN2A
5 sodium channel complex GO:0034706 8.62 SCN1A SCN2A

Biological processes related to Epilepsy with Generalized Tonic-Clonic Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.58 CACNA1H SCN1A SCN2A
2 transmembrane transport GO:0055085 9.54 CACNA1H SCN1A SCN2A
3 sodium ion transport GO:0006814 9.46 SCN1A SCN2A
4 regulation of membrane potential GO:0042391 9.43 CACNA1H SCN1A
5 ion transmembrane transport GO:0034220 9.43 CACNA1H SCN1A SCN2A
6 regulation of ion transmembrane transport GO:0034765 9.33 CACNA1H SCN1A SCN2A
7 sodium ion transmembrane transport GO:0035725 9.32 SCN1A SCN2A
8 neuronal action potential GO:0019228 9.13 CACNA1H SCN1A SCN2A
9 membrane depolarization during action potential GO:0086010 8.8 CACNA1H SCN1A SCN2A

Molecular functions related to Epilepsy with Generalized Tonic-Clonic Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.26 SCN1A SCN2A
2 sodium channel activity GO:0005272 9.16 SCN1A SCN2A
3 voltage-gated sodium channel activity GO:0005248 8.96 SCN1A SCN2A
4 voltage-gated ion channel activity GO:0005244 8.8 CACNA1H SCN1A SCN2A

Sources for Epilepsy with Generalized Tonic-Clonic Seizures

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
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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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