MCID: EPL001
MIFTS: 40

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 6 71
Epileptic Seizures, Tonic-Clonic 12
Epilepsy, Tonic-Clonic 43
Grand Mal Epilepsy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:7725
MeSH 43 D004830
NCIt 49 C3022
SNOMED-CT 67 352818000
UMLS 71 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 seizure disorder and epileptic encephalopathy, early infantile, 6, 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 Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Lamotrigine and Levetiracetam have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and cerebellum, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and behavior/neurological

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 top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 seizure disorder 31.9 SCN2A SCN1A
2 epileptic encephalopathy, early infantile, 6 31.6 SCN2A SCN1B SCN1A GABRG2 GABRD GABRA1
3 genetic epilepsy with febrile seizures plus 31.1 SCN2A SCN1A
4 myoclonic epilepsy of infancy 31.0 SCN1A GABRG2
5 visual epilepsy 30.7 SLC9A6 SCN2A SCN1B SCN1A GABRG2 CDKL5
6 febrile seizures 30.3 SCN2A SCN1B SCN1A GABRG2 GABRD
7 photosensitive epilepsy 29.5 SCN2A SCN1B SCN1A GJA8 GABRG2 GABRA1
8 focal epilepsy 29.4 SCN2A SCN1B SCN1A GABRG2 GABRD CDKL5
9 epilepsy, idiopathic generalized 29.0 SCN2A SCN1B SCN1A GJA8 GABRG2 GABRD
10 early myoclonic encephalopathy 28.6 SCN2A SCN1B SCN1A GABRG2 GABRD GABRA1
11 generalized epilepsy with febrile seizures plus 28.6 SCN2A SCN1B SCN1A GABRG2 GABRD GABRA1
12 epilepsy 27.7 WWOX SLC9A6 SCN2A SCN1B SCN1A GABRG2
13 epilepsy, familial adult myoclonic, 3 11.5
14 scn1a-related seizure disorders 11.5
15 neuropathy, hereditary sensory and autonomic, type vii 10.4 SCN2A SCN1A
16 malignant migrating partial seizures of infancy 10.4 SCN2A SCN1A
17 episodic pain syndrome, familial, 2 10.4 SCN2A SCN1A
18 verbal auditory agnosia 10.4 SCN1B GABRG2
19 reflex epilepsy 10.3 SCN1A GABRG2
20 neurofibromatosis, type ii 10.3
21 low-grade astrocytoma 10.3 SCN2A SCN1A
22 landau-kleffner syndrome 10.3 SCN2A SCN1A GABRG2
23 febrile seizures, familial, 6 10.3 SCN1B SCN1A GABRG2
24 paramyotonia congenita of von eulenburg 10.3 SCN2A SCN1B SCN1A
25 generalized epilepsy with febrile seizures plus, type 1 10.3 SCN1B SCN1A GABRG2
26 paroxysmal extreme pain disorder 10.3 SCN2A SCN1B SCN1A
27 epilepsy, nocturnal frontal lobe, 1 10.3 SCN1B SCN1A GABRG2
28 cataract 1, multiple types 10.3 GJA8 GABRG2
29 unverricht-lundborg syndrome 10.2 SCN1B EFHC1 CSTB
30 cataract 14, multiple types 10.2 GJA8 GABRG2
31 migraine, familial hemiplegic, 3 10.2 SCN2A SCN1A
32 immunoglobulin e concentration, serum 10.2
33 status epilepticus 10.2
34 encephalopathy 10.2
35 cysticercosis 10.2
36 partial motor epilepsy 10.2 SCN2A SCN1A CDKL5
37 febrile seizures, familial, 11 10.2 SCN1A GABRG2 GABRD
38 epileptic encephalopathy, early infantile, 14 10.1 SCN2A SCN1A CDKL5
39 febrile seizures, familial, 5 10.1 SCN2A SCN1B SCN1A GABRG2
40 sturge-weber syndrome 10.1 SCN1A GABRG2 CDKL5
41 hyperkalemic periodic paralysis 10.1 SCN2A SCN1A
42 coproporphyria, hereditary 10.1
43 schistosoma mansoni infection, susceptibility/ 10.1
44 tardive dyskinesia 10.1
45 aarskog-scott syndrome 10.1
46 severe cutaneous adverse reaction 10.1
47 erythema multiforme 10.1
48 metabolic acidosis 10.1
49 scoliosis 10.1
50 idiopathic scoliosis 10.1

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 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 CLCN2 CSTB EFHC1 GABRA1 SCN1A SCN2A

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.83 CDKL5 CLCN2 CSNK1G1 CSTB EFHC1 GABRA1
2 nervous system MP:0003631 9.47 CDKL5 CLCN2 CSTB EFHC1 GABRA1 GABRD

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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
2
Levetiracetam Approved Phase 4 102767-28-2 441341
3
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
4 Hormones Phase 4
5 Sodium Channel Blockers Phase 4
6 Diuretics, Potassium Sparing Phase 4
7 Calcium, Dietary Phase 4
8 calcium channel blockers Phase 4
9 Antipsychotic Agents Phase 4
10 Anticonvulsants Phase 4
11 Psychotropic Drugs Phase 4
12
Calcium Nutraceutical Phase 4 7440-70-2 271
13
Topiramate Approved Phase 3 97240-79-4 5284627
14
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
15
Stiripentol Approved Phase 3 49763-96-4
16
Naloxone Approved, Vet_approved Phase 3 465-65-6 5284596
17 Hypoglycemic Agents Phase 3
18 Narcotics Phase 3
19 Endorphins Phase 3
20 Analgesics, Opioid Phase 3
21 Narcotic Antagonists Phase 3
22 Neurotransmitter Agents Phase 3
23 Pharmaceutical Solutions Phase 3
24 Serotonin Uptake Inhibitors Phase 3
25
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 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
2 Comparison Study of Efficacy and Safety of Levetiracetam Versus Valproate in Treatment of Idiopathic Generalized Tonic-clonic Seizures Active, not recruiting NCT03940326 Phase 4 Levetiracetam;Valproate
3 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
4 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
5 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
6 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
7 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
8 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
9 A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
10 Efficacy of Naloxone in Reducing Postictal Central Respiratory Dysfunction in Patients With Epilepsy Recruiting NCT02332447 Phase 3 naloxone;Placebo
11 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
12 An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
13 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
14 Microburst VNS Therapy Feasibility Study in Subjects With Refractory Epilepsy Recruiting NCT03446664 Phase 1
15 An Open-label Observation Study of Topiramate Administration as Adjuvant Therapy for Focal Epilepsy, Lennox-Gastaut Syndrome Epileptic Seizures and Generalized Tonoclonic Seizures in Adults and Children Aged 2 Years and Older Completed NCT00297349 Topiramate
16 Quality of Life in Epilepsy Patients Wearing a Biosensor for Seizure Detection Through Electrodermal Activity and Accelerometry - a Pilot Study Recruiting NCT03831802
17 XLTCS - Accelerometer Data Collection in an Epilepsy Monitoring Unit (EMU) Recruiting NCT04282681

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Carbamazepine
Mephenytoin
Mephobarbital
Phenobarbital
Phenobarbital Sodium
Phenytoin
Phenytoin sodium
PHENYTOIN SODIUM,EXTENDED
PHENYTOIN SODIUM,PROMPT
topiramate

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:

40
Testes, Brain, Cerebellum, Kidney, Skin

Publications for Epilepsy with Generalized Tonic-Clonic Seizures

Articles related to Epilepsy with Generalized Tonic-Clonic Seizures:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Epidemiology and outcome of idiopathic generalized epilepsy in adults. 61
31838768 2020
2
Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging. 61
32210904 2020
3
Phenytoin-Induced Paradoxical Seizures and Blood Dyscrasias in a Patient Receiving Rapid Intravenous Infusion: A Case Report. 61
31875759 2019
4
Early necrotic skin lesions after a ABO-incompatible kidney transplantation: The threat of Cunninghamella Spp. 61
31529558 2019
5
Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy. 61
31012364 2019
6
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome. 61
30947078 2019
7
Abnormalities of diffusional kurtosis imaging and regional homogeneity in idiopathic generalized epilepsy with generalized tonic-clonic seizures. 61
30651841 2019
8
Generalized epilepsies. 61
31307608 2019
9
Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients. 61
31354331 2019
10
The electroclinical features of idiopathic generalized epilepsy patients presenting with fixation-off sensitivity. 61
30530446 2018
11
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes. 61
29948376 2018
12
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. 61
29367179 2018
13
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 61
29924869 2018
14
Treating People With Epilepsy in Rural Low-Income Countries Is Feasible. Observations and Reflections From a "Real Life Experience" After a Long Lasting Intervention in the Rural Chaco. 61
30364141 2018
15
Multimodal Data and Machine Learning for Detecting Specific Biomarkers in Pediatric Epilepsy Patients With Generalized Tonic-Clonic Seizures. 61
30619025 2018
16
Long-term outcome in adolescent-onset generalized genetic epilepsies. 61
28464258 2017
17
Anticonvulsant drugs for generalized tonic-clonic epilepsy. 61
28481729 2017
18
Prognostic factors in patients with refractory idiopathic generalized epilepsy. 61
28157601 2017
19
Generalized epilepsy syndromes and callosal thickness: Differential effects between patients with juvenile myoclonic epilepsy and those with generalized tonic-clonic seizures alone. 61
27923174 2017
20
Focal interictal epileptiform discharges in idiopathic generalized epilepsy. 61
26956566 2016
21
Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf? 61
26316843 2015
22
Contribution of KCNJ10 gene polymorphisms in childhood epilepsy. 61
25008907 2015
23
Pronounced reversible hyperammonemic encephalopathy associated with combined valproate-topiramate therapy in a 7-year-old girl. 61
26090323 2015
24
[Anxiety disorder due to epilepsy: a case report]. 61
25742040 2015
25
Factors associated with hopelessness in epileptic patients. 61
25540729 2014
26
Increased interhemispheric resting-state in idiopathic generalized epilepsy with generalized tonic-clonic seizures: a resting-state fMRI study. 61
25043752 2014
27
Effects of conventional anticonvulsant drugs on generalized tonic-clonic seizures in Noda epileptic rats. 61
24951328 2014
28
Generalized epilepsy in a patient with mosaic Turner syndrome: a case report. 61
24694237 2014
29
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 61
24369382 2014
30
Valproate in adolescents with photosensitive epilepsy with generalized tonic-clonic seizures only. 61
23891468 2014
31
The effects of a history of seizures during pregnancy on umbilical arterial blood gas values in pregnant women with epilepsy. 61
25317039 2014
32
EEG characterization of audiogenic seizures in the hamster strain GASH:Sal. 61
23916142 2013
33
A clinical study of syndromes of idiopathic (genetic) generalized epilepsy. 61
23149265 2013
34
Idiopathic generalized epilepsies. 61
23622205 2013
35
Unilateral basal-ganglia involvement likely due to valproate-induced hyperammonemic encephalopathy. 61
22086613 2012
36
EEG-LORETA endophenotypes of the common idiopathic generalized epilepsy syndromes. 61
22240326 2012
37
Carbamazepine-induced erythema multiforme major in an epileptic patient with bipolar affective disorder. 61
22629103 2012
38
[Co-morbidity of attention deficit hyperactivity disorder in children with epilepsy]. 61
22357462 2012
39
Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3. 61
22218271 2012
40
Unexpected incremental gain from an implantable loop recorder: aiding diagnosis of generalised tonic-clonic epilepsy in a patient with unexplained transient loss of consciousness. 61
27326039 2012
41
Drosophila as a model for epilepsy: bss is a gain-of-function mutation in the para sodium channel gene that leads to seizures. 61
21115970 2011
42
Cerebellum abnormalities in idiopathic generalized epilepsy with generalized tonic-clonic seizures revealed by diffusion tensor imaging. 61
21203575 2010
43
Idiopathic generalized epilepsy with generalized tonic-clonic seizures (IGE-GTC): a population-based cohort with >20 year follow up for medical and social outcome. 61
20471324 2010
44
Latencies to first typical generalized spike-wave discharge in idiopathic generalized epilepsies during video-EEG monitoring. 61
20087210 2010
45
Idiopathic generalized tonic-clonic epilepsy and photosensitivity: a long-term follow-up study. 61
19664099 2009
46
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 61
19734009 2009
47
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. 61
19339291 2009
48
Anticonvulsant properties of saponins from Ficus platyphylla stem bark. 61
19111909 2009
49
Idiopathic epilepsy with generalized tonic-clonic seizures only versus idiopathic epilepsy with phantom absences and generalized tonic-clonic seizures: one or two syndromes? 61
18616555 2008
50
[Epilepsy with generalized convulsive seizures on awakening (epilepsy with generalized tonic-clonic seizures "around sleep")]. 61
18454092 2008

Variations for Epilepsy with Generalized Tonic-Clonic Seizures

ClinVar genetic disease variations for Epilepsy with Generalized Tonic-Clonic Seizures:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNAP25 NM_130811.3(SNAP25):c.142G>T (p.Val48Phe)SNV Likely pathogenic 208672 rs797044873 20:10265399-10265399 20:10284751-10284751

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
12.67 SCN2A SCN1B SCN1A GJA8 CSNK1G1
2
Show member pathways
12.32 SCN2A SCN1B SCN1A CLCN2
3
Show member pathways
11.64 SCN2A SCN1B SCN1A
4
Show member pathways
11.31 SCN2A SCN1B SCN1A
5 10.93 GABRG2 GABRD GABRA1
6 10.61 SCN2A SCN1B SCN1A
7
Show member pathways
10.58 GABRG2 GABRA1
8 10.03 GABRG2 GABRD GABRA1

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.3 SLC9A6 SLC8A3 SCN2A SCN1B SCN1A PAQR8
2 plasma membrane GO:0005886 10.29 WWOX SLC9A6 SLC8A3 SCN2A SCN1B SCN1A
3 integral component of plasma membrane GO:0005887 10.01 SLC8A3 SCN2A SCN1B GJA8 GABRG2 GABRD
4 synapse GO:0045202 9.97 SLC9A6 SLC8A3 GABRG2 GABRD GABRA1 CDKL5
5 axon GO:0030424 9.8 SLC8A3 SCN2A SCN1B SCN1A GABRG2 GABRD
6 GABA-ergic synapse GO:0098982 9.69 GABRG2 GABRD GABRA1
7 T-tubule GO:0030315 9.63 SCN2A SCN1B SCN1A
8 intercalated disc GO:0014704 9.61 SCN2A SCN1B SCN1A
9 GABA-A receptor complex GO:1902711 9.54 GABRG2 GABRD GABRA1
10 voltage-gated sodium channel complex GO:0001518 9.43 SCN2A SCN1B SCN1A
11 node of Ranvier GO:0033268 9.33 SCN2A SCN1B SCN1A
12 chloride channel complex GO:0034707 9.26 GABRG2 GABRD GABRA1 CLCN2
13 sodium channel complex GO:0034706 8.8 SCN2A SCN1B SCN1A

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SLC9A6 SLC8A3 SCN2A SCN1A GJA8 CLCN2
2 regulation of ion transmembrane transport GO:0034765 9.73 SCN2A SCN1B SCN1A CLCN2
3 ion transmembrane transport GO:0034220 9.73 SCN2A SCN1A GABRG2 GABRD GABRA1 CLCN2
4 regulation of membrane potential GO:0042391 9.71 SCN1A GABRG2 GABRD GABRA1
5 regulation of postsynaptic membrane potential GO:0060078 9.67 GABRG2 GABRD GABRA1
6 chloride transmembrane transport GO:1902476 9.67 GABRG2 GABRD GABRA1 CLCN2
7 nervous system process GO:0050877 9.65 GABRG2 GABRD GABRA1
8 chloride transport GO:0006821 9.62 GABRG2 GABRD GABRA1 CLCN2
9 membrane depolarization during action potential GO:0086010 9.57 SCN2A SCN1A
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.56 SCN1B SCN1A
11 synaptic transmission, GABAergic GO:0051932 9.55 GABRG2 GABRA1
12 sodium ion transport GO:0006814 9.55 SLC9A6 SLC8A3 SCN2A SCN1B SCN1A
13 inhibitory synapse assembly GO:1904862 9.54 GABRG2 GABRA1
14 neuronal action potential propagation GO:0019227 9.52 SCN1B SCN1A
15 cellular response to histamine GO:0071420 9.51 GABRG2 GABRA1
16 sodium ion transmembrane transport GO:0035725 9.35 SLC9A6 SLC8A3 SCN2A SCN1B SCN1A
17 ion transport GO:0006811 9.28 SLC9A6 SLC8A3 SCN2A SCN1B SCN1A GABRG2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.67 SCN2A SCN1B SCN1A CLCN2
2 neurotransmitter receptor activity GO:0030594 9.63 GABRG2 GABRD GABRA1
3 extracellular ligand-gated ion channel activity GO:0005230 9.61 GABRG2 GABRD GABRA1
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.58 GABRG2 GABRD GABRA1
5 GABA-gated chloride ion channel activity GO:0022851 9.51 GABRG2 GABRA1
6 sodium channel activity GO:0005272 9.5 SCN2A SCN1B SCN1A
7 benzodiazepine receptor activity GO:0008503 9.49 GABRG2 GABRA1
8 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.48 GABRG2 GABRA1
9 voltage-gated sodium channel activity GO:0005248 9.43 SCN2A SCN1B SCN1A
10 ion channel activity GO:0005216 9.35 SCN2A SCN1A GABRG2 GABRD GABRA1
11 GABA-A receptor activity GO:0004890 9.33 GABRG2 GABRD GABRA1
12 chloride channel activity GO:0005254 8.92 GABRG2 GABRD GABRA1 CLCN2

Sources for Epilepsy with Generalized Tonic-Clonic Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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