MCID: EPL001
MIFTS: 34

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
Tonic-Clonic Epilepsy 12 73
Epileptic Seizures, Tonic-Clonic 12
Epilepsy, Tonic-Clonic 44
Grand Mal Epilepsy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:7725
MeSH 44 D004830
NCIt 50 C3022
SNOMED-CT 68 352818000
UMLS 73 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 epilepsy, idiopathic generalized, 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 L1CAM interactions and Phase 0 - rapid depolarisation. Affiliated tissues include brain and 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 25)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 31.9 SCN1A SCN2A TBC1D24
2 epilepsy, idiopathic generalized 29.0 EFHC1 SCN1A SCN2A TBC1D24
3 epilepsy 28.9 CSTB EFHC1 SCN1A TBC1D24
4 scn1a-related seizure disorders 11.2
5 photosensitive epilepsy 10.2
6 seizures, benign familial infantile, 3 10.2 SCN1A SCN2A
7 infantile epileptic encephalopathy 9.9 SCN1A SCN2A
8 early myoclonic encephalopathy 9.9 CSTB SCN1A
9 seizure disorder 9.8 SCN1A SCN2A
10 benign familial neonatal epilepsy 9.7 SCN2A TBC1D24
11 lennox-gastaut syndrome 9.6 SCN1A TBC1D24
12 epileptic encephalopathy, early infantile, 15 9.6 SCN1A SCN2A
13 childhood electroclinical syndrome 9.6 EFHC1 TBC1D24
14 progressive myoclonus epilepsy 9.5 CSTB TBC1D24
15 malignant migrating partial seizures of infancy 9.3 SCN1A SCN2A TBC1D24
16 infancy electroclinical syndrome 9.3 SCN1A SCN2A TBC1D24
17 neonatal period electroclinical syndrome 9.3 SCN1A SCN2A TBC1D24
18 west syndrome 9.3 SCN1A SCN2A TBC1D24
19 focal epilepsy 9.2 SCN1A SCN2A TBC1D24
20 benign epilepsy with centrotemporal spikes 9.1 CSTB SCN2A TBC1D24
21 unverricht-lundborg syndrome 9.1 CSTB EFHC1 TBC1D24
22 generalized epilepsy with febrile seizures plus 8.7 EFHC1 SCN1A SCN2A TBC1D24
23 trehalase deficiency 8.6 CSTB SCN1A SCN2A TBC1D24
24 adolescence-adult electroclinical syndrome 7.9 CSTB EFHC1 PAQR8 SCN1A TBC1D24
25 epilepsy, idiopathic generalized 10 7.4 CSTB EFHC1 PAQR8 SCN1A SCN2A TBC1D24

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.61 CSTB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.61 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.61 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.61 PAQR8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.61 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.61 PAQR8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.61 CSTB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.61 CSTB PAQR8
9 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 SCN1A SCN2A CSTB EFHC1

Drugs & Therapeutics for Epilepsy with Generalized Tonic-Clonic Seizures

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Brain, Cerebellum

Publications for Epilepsy with Generalized Tonic-Clonic Seizures

Articles related to Epilepsy with Generalized Tonic-Clonic Seizures:

# Title Authors Year
1
Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic-clonic seizure. ( 27726245 )
2017
2
Valproate in adolescents with photosensitive epilepsy with generalized tonic-clonic seizures only. ( 23891468 )
2014
3
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
4
Microstructural brain abnormalities of children of idiopathic generalized epilepsy with generalized tonic-clonic seizure: A voxel-based diffusional kurtosis imaging study. ( 24797060 )
2014
5
Increased interhemispheric resting-state in idiopathic generalized epilepsy with generalized tonic-clonic seizures: a resting-state fMRI study. ( 25043752 )
2014
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
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
9
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. ( 16210358 )
2005

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
11.25 SCN1A SCN2A
2
Show member pathways
10.83 SCN1A SCN2A
3 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 regulation of ion transmembrane transport GO:0034765 9.32 SCN1A SCN2A
2 sodium ion transport GO:0006814 9.26 SCN1A SCN2A
3 sodium ion transmembrane transport GO:0035725 9.16 SCN1A SCN2A
4 membrane depolarization during action potential GO:0086010 8.96 SCN1A SCN2A
5 neuronal action potential GO:0019228 8.62 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 9.32 SCN1A SCN2A
2 voltage-gated ion channel activity GO:0005244 9.26 SCN1A SCN2A
3 cation channel activity GO:0005261 9.16 SCN1A SCN2A
4 sodium channel activity GO:0005272 8.96 SCN1A SCN2A
5 voltage-gated sodium channel activity GO:0005248 8.62 SCN1A SCN2A

Sources for Epilepsy with Generalized Tonic-Clonic Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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