MCID: GNR015

Generalized Epilepsy malady

Summaries for Generalized Epilepsy

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44Wikipedia, 22MalaCards
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Wikipedia: Generalised epilepsy, also known as primary generalised epilepsy or idiopathic epilepsy, is a form of...44 more...

MalaCards: Generalized Epilepsy, also known as epilepsy, generalized, is related to idiopathic generalized epilepsy and temporal lobe epilepsy. An important gene associated with Generalized Epilepsy is GABRD (gamma-aminobutyric acid (GABA) A receptor, delta), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Sodium channels and transporters- inward current. The drugs primidone and anti-epileptic agent [epc] and the compounds ralfinamide mesylate and flecainide acetate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are integument and hearing/vestibular/ear.

Aliases & Descriptions for Generalized Epilepsy

Sources:
8DISEASES, 32Novoseek , 43UMLS
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generalized epilepsy 8
epilepsy, generalized 43
epilepsy generalized 32
epilepsy 43

Related Diseases for Generalized Epilepsy

Sources:
13GeneCards, 14GeneDecks
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Diseases related to generalized epilepsy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 405)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic generalized epilepsy37.3CLCN2, ME2, CACNB4, CACNA1H, EGI
2temporal lobe epilepsy35.2SCN1B, LGI1, GRIK2, ABCB1, TSPO, SLC1A2
3febrile seizures35.1KCNQ2, KCNQ3, SCN1B, SCN1A, LGI1, CHRNB2
4generalized epilepsy with febrile seizures plus34.9KCNQ2, KCNQ3, SCN1B, SCN1A, LGI1, CHRNB2
5myoclonus34.6SCN2A, CSTB, SLC25A22, EFHC1, EPM2AIP1, GABBR1
6autosomal dominant nocturnal frontal lobe epilepsy33.5KCNQ2, KCNQ3, SCN1B, SCN1A, CHRNB2, CHRNA4
7focal epilepsy33.0CLCN2, SCN1A, LGI1, GABRG2
8intractable epilepsy32.4SCN2A, SCN1A, ARX, ABCB1
9absence epilepsy32.2SGCZ, CLCN2, SCN1B, LGI4, CHRNA4, MTMR9
10generalized epilepsy and paroxysmal dyskinesia31.9KCNT1, KCNMA1
11severe myoclonic epilepsy of infancy (smei)31.4SCN1B, SCN2A, SCN1A, GABRG2
12seizure disorder31.2KCNQ2, SCN2A, SCN1A
13juvenile myoclonic epilepsy30.5CLCN2, CACNB4, GABRD, GABRA1
14dravet syndrome30.0PCDH19, SCN1B, SCN2A, SCN9A, SCN1A, GABRG2
15hemiplegic migraine30.0SCN1A, ATP1A2, CACNA1A
16familial hemiplegic migraine29.7SCN1A, ATP1A2, CACNA1A
17early myoclonic encephalopathy29.7SCN1A, ARX, CSTB
18myokymia with neonatal epilepsy29.6KCNQ2, KCNQ3
19epilepsies, partial28.9SCN1A, LGI1, CHRNA4, TSPO, GABRG2
20epilepsy with generalized tonic-clonic seizures28.8SCN2A, SCN1A
21merrf syndrome28.8SCN1B, SCN1A, CHRNA4, ARX, CSTB, GABRG2
22episodic ataxia28.8KCNQ3, SCN2A, ATP1A2, CACNB4, CACNA1A
23juvenile absence epilepsy28.1CLCN2, GRIK2, ALDH5A1, CACNA1A, CACNG3, CACNA1H
24cerebellar ataxia28.0PAX6, SCN8A, SCN1A, CACNA1A, GAD1, GAD2
25infantile epileptic encephalopathy28.0PCDH19, SCN1A, ARX, STXBP1
26long qt syndrome27.8KCNQ2, KCNQ3, SCN1B, SCN8A, ZACN
27epilepsy syndrome27.8PCDH19, CLCN2, KCNJ6, KCNJ10, KCNQ2, KCNQ3
28ataxia27.5PAX6, KCNJ10, SCN2A, SCN8A, SCN1A, ATP1A2
29childhood absence epilepsy27.4CLCN2, LGI4, CHRNA4, JRK, CACNA1G, CACNA1I
30status epilepticus27.2SCN1A, LGI1, ALDH5A1, CACNA1A, ABCB1, HCN1
31cerebritis27.2PAX6, KCNMA1, SCN1B, SCN8A, CHRNA7, CHRNB2
32blindness27.2CLCN2, PAX6, SCN1A, ATP1A2, MAOA, GPR98
33intellectual disability27.1PCDH19, PAX6, KCNJ6, KCNQ2, SCN1A, CHRNA7
34febrile convulsions27.1KCNQ2, KCNQ3, SCN9A, SCN1A, CHRNA4, GPR98
35seizures27.0SGCZ, PCDH19, CLCN2, PAX6, KCNJ6, KCNJ10
36dementia26.8CHRNA7, CHRNB2, CHRNA4, MAOA, CACNA1A, HP
37myokymia26.6KCNQ2, KCNQ3, CACNA1A
38benign familial neonatal-infantile seizures26.5KCNQ3, SCN1B, LGI4
39benign neonatal seizures26.4KCNQ2, KCNQ3
40mental retardation syndrome26.0PAX6, KCNQ2, ATP1A2, ARX, MAOA, ALDH5A1
41anxiety disorder25.8MAOA, TSPO, GABBR1, GAD1
42headache25.8SCN1A, ATP1A2, MAOA, CACNA1A, HP, CPA6
43ohtahara syndrome25.8ARX, STXBP1
44encephalitis25.7SCN1A, SCN2B, LGI1, CHRNA7, ABCB1, TSPO
45neuropathy25.6KCNQ2, SCN2A, SCN9A, SCN8A, LGI1, ATP1A2
46convulsions25.5PCDH19, KCNQ2, KCNQ3, SCN1B, SCN2A, SCN9A
47limbic encephalitis25.4LGI1, GAD1, GAD2
48neurologic diseases25.3SCN8A, ATP1A2, CACNB4, CACNA1A, HP, TSPO
49tremor24.9SCN8A, CACNA1A, ABCB1, STXBP1, GABRA1
50down syndrome24.6KCNJ6, KCNQ2, CHRNA7, CHRNB2, CHRNA4, ALDH5A1

Graphical network of the top 20 diseases related to generalized epilepsy:



Graphical network of diseases related to generalized epilepsy

Clinical Features for Generalized Epilepsy

Drugs & Therapeutics for Generalized Epilepsy

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for generalized epilepsy

Drug clinical trials:

Search ClinicalTrials for generalized epilepsy

Search NIH Clinical Center for generalized epilepsy

Search CenterWatch for generalized epilepsy

Inferred drug relations via UMLS/NDF-RT:

43 28 anti-epileptic agent [epc], primidone

Genetic Tests for Generalized Epilepsy

Anatomical Context for Generalized Epilepsy

Sources:
22MalaCards
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MalaCards organs/tissues related to generalized epilepsy:

22
Brain

Phenotypes for genes affiliated with Generalized Epilepsy

Sources:
25MGI
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Publications for genes affiliated with Generalized Epilepsy

Sources:
35PubMed
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Articles related to generalized epilepsy:

(show top 50)    (show all 97)
idTitleAuthorsYearAffiliating Genes
1Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopath ic generalized epilepsy. (22131395)DiFrancesco J.C.... DiFrancesco D.2011HCN2
2Novel I+1 and I^2 GABAA receptor subunit mutations in f amilies with idiopathic generalized epilepsy. (21714819)Lachance-Touchette P.... Cossette P.2011GABRG2, GABRA1
3Generalized epilepsy with febrile seizures plus: nove l SCN1A mutation. (20117752)Dimova P.S.... Kremenski I.2010SCN1A
4Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy. (20550555)Lachance-Touchette P.... Cossette P.2010GABRB3
5Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. (20600615)Li N.... Tang B.S.2010SCN1A
6A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. (19339291)Livingston J.H.... Zuberi S.M.2009SCN1A
7Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. (19236456)Fendri-Kriaa N.... Triki C.2009GABRG2, SCN1A
8Clinical analysis and screening for SCN1A gene mutat ion in two pedigrees of generalized epilepsies with febrile seizures plus (19951487)Wang X.H.... Sun D.K.2009SCN1A
9Progress in molecular genetics of generalized epilepsy with febrile seizures plus (18458705)Sun H.H.... Zhang Y.H.2008GABRG2, SCN1A, SCN1B
10The influence of C3435T polymorphism of ABCB1 gene on penetration of phenobarbital across the blood-brain barrier in patients with generalized epilepsy. (18329296)Basic S.... Posavec A.2008ABCB1
11Glutamic acid decarboxylase antibodies in idiopathic generalized epilepsy and type 1 diabetes. (17167787)Striano P.... Striano S.2008GAD2
12Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. (17931874)Tang B.... Escayg A.2008HCN2, HCN1
13A novel locus for generalized epilepsy with febrile seizures plus in French families. (18625863)Baulac S.... Nabbout R.2008GABRG2, SCN1A, SCN1B
14Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. (17629415)Xu R.... Petrou S.2007SCN1B
15Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. (17215107)Hempelmann A.... Sander T.2007GABRB3
16Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. (17696120)Heron S.E.... Zamponi G.W.2007CACNA1H
17Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. (16958040)Lorenz S.... Sander T.2007KCNMB3
18Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. (17159113)Stogmann E.... Zimprich A.2006EFHC1
19Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. (16932951)Stogmann E.... Zimprich A.2006CLCN2
20A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. (16565161)Zhong X.... Agnew W.S.2006CACNA1H
21Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. (16205844)Haider M.Z.... Al-Bloushi M.2005CHRNA4, CSTB, SCN1B
22Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. (16190936)Lenzen K.P.... Sander T.2005ME2
23Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. (15532013)Greenberg D.A.... Kang H.2005ME2
24SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. (15944908)Ebach K.... Neubauer B.A.2005SCN1A
25Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. (16023832)Lenzen K.P.... Sander T.2005GABRD
26Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families (16053169)Ristic A.J.... Sokic D.2005GABRG2, SCN1A, SCN1B
27Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. (15852375)Khosravani H.... Zamponi G.W.2005CACNA1H
28GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. (15115768)Dibbens L.M.... Mulley J.C.2004GABRD
29Genetic variation of CACNA1H in idiopathic generalized epilepsy. (15048902)Heron S.E.... Scheffer I.E.2004CACNA1H
30Exploring new gene discoveries in idiopathic generalized epilepsy. (12752457)Noebels J.L.2003ZACN
31Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. (12919402)Annesi G.... Quattrone A.2003SCN1A
32An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. (14636323)Doherty M.J.... Farrell D.F.2003ARSE
33Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). (12576172)Cossette P.... Rouleau G.A.2003SCN1A
34Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. (11748509)Harkin L.A.... Petrou S.2002GABRG2
35Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. (12399075)Sander T.... Nurnberg P.2002SLC4A3
36Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. (12011299)Wallace R.H.... Mulley J.C.2002SCN1B
37Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. (11254444)Wallace R.H.... Berkovic S.F.2001SCN1A, SCN1B
38Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. (11342703)Chioza B.... Makoff A.J.2001CACNA1A
39Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy. (11325574)Steinlein O.K.... Mount D.B.2001SLC12A6
40Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy. (10970730)Haug K.... Heils A.2000ARC
41Coding and noncoding variation of the human calcium-channel beta4- subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. (10762541)Escayg A.... Meisler M.H.2000CACNB4
42Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy. (10759301)Haug K.... Heils A.2000MAOA
43No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy. (10996506)Haug K.... Heils A.2000KCNQ3, KCNQ2
44A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. (10486327)Baulac S.... Leguern E.1999SCN1A, SCN8A, SCN2A
45Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. (10402495)Sander T.... Riess O.1999GABBR1
46Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B. (9697698)Wallace R.H.... Mulley J.C.1998SCN1B
47Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. (9259383)Steinlein O.... Propping P.1997CHRNA4
48Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies. (7675232)Sander T.... Sailer U.1995GRIK2
49Generalized epilepsy disclosing medium-chain-acyl-CoA dehydrogenase deficiency (8135611)Chabrol B.... Pinsard N.1993ACADM
50Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. (1922810)Durner M.... Janz D.1991EGI

Expression for genes affiliated with Generalized Epilepsy

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Generalized Epilepsy

Pathways for genes affiliated with Generalized Epilepsy

Sources:
34PharmGKB, 10EMD Millipore, 36QIAGEN, 38Reactome, 20KEGG, 41Thomson Reuters
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Pathways related to generalized epilepsy according to GeneDecks:

(show top 50)    (show all 54)
idPathwayScoreTop Affiliating Genes
1Antiarrhythmic Pathway, Pharmacodynamics3410.4HCN2, SCN1B, SCN2B, CACNA1G, CACNA1H
2Sodium channels and transporters- inward current1010.3SCN8A, SCN2A, TRPC4, HCN1, HCN2, SCN1A
3GABA signaling in brain1010.3GABRA1, GAD2, GAD1, GABRD, GABRG2, GABBR1
4Cholera Infection3610.3SCN9A, SCN8A, SCN1A, SCN2B, SCN1B, SCN7A
5Aldosterone Signaling in Epithelial Cells3610.2SCN2B, SCN9A, SCN8A, SCN1A, SCN7A, ATP1A2
6Neuropathic Pain-Signaling in Dorsal Horn Neurons3610.2KCNK12, SCN7A, SCN1B, SCN9A, SCN1A, SCN8A
7Celecoxib Pathway, Pharmacodynamics3410.2CACNA1A, CACNA1H, KCNQ3, CACNA1G, KCNQ2, CACNB4
8Potassium transporters- inward current1010.1KCNJ9, KCNJ10, HCN1, HCN2, KCNJ6
9Glutamic acid signaling1010.1GAD2, GRIK2, GRM4, SLC1A2, GAD1
10Potassium transporters- outward current1010.1KCNJ6, KCNJ9, KCNQ3, KCNQ2, KCNMA1
11Hepatic ABC Transporters3610.0KCNK12, ABCB1, KCNT1, ATP1A2, SLC4A3, CLCN2
12Calcium channels1010.0CACNA1A, CHRNA7, CHRNB2, CHRNA4, CACNA1I, CACNA1H
13Axon guidance3810.0SCN1B, SCN8A, KCNQ2, TRPC4, CACNA1H, CACNB4
14Neuronal System3810.0GABRB3, GABRA1, GABRG2, HCN2, HCN1, KCNMA1
15Cholinergic synapse2010.0CHRNA4, KCNJ6, KCNQ2, KCNQ3, CHRNA7, CHRNB2
16nNOS Signaling in Skeletal Muscle3610.0CACNA1G, CACNA1A, CACNA1I, CACNG3, CACNB4, CACNA1H
17DREAM Repression and Dynorphin Expression3610.0CACNA1H, CACNG3, CACNA1I, CACNA1A, CACNA1G, CACNB4
18Fc-Gamma-RIIB Signaling in B-Cells3610.0CACNA1G, CACNA1A, CACNA1I, CACNG3, CACNA1H, CACNB4
19Fc-GammaR Pathway369.9CACNB4, CACNA1A, CACNA1I, CACNG3, CACNA1H, CACNA1G
20Sperm Motility369.9KCNT1, KCNK12, CACNA1G, CACNA1H, CACNA1I, HCN2
21CCR5 Pathway in Macrophages369.9CACNA1G, CACNA1A, CACNB4, CACNA1I, CACNG3, CACNA1H
22BMP Pathway369.9CACNA1H, CACNB4, CACNA1G, CACNA1A, CACNA1I, CACNG3
23Caspase Cascade369.9CACNG3, CACNA1A, CACNA1H, CACNA1G, CACNB4, CACNA1I
24Transcription CREB pathway109.9CACNA1A, CACNA1I, CACNG3, CACNA1H, CACNA1G, CACNB4
25Fc-EpsilonRI Pathway369.9CACNA1I, CACNA1G, CACNA1H, CACNB4, CACNG3, CACNA1A
26PDGF Pathway369.9CACNB4, CACNA1I, CACNA1G, CACNA1H, CACNA1A, CACNG3
27Sweet Taste Signaling369.8KCNK12, CACNA1H, CACNG3, CACNA1I, CACNA1A, CACNA1G
28Androgen Signaling369.8CACNB4, CACNA1G, CACNA1I, CACNG3, CACNA1H, CACNA1A
29Melatonin Signaling369.8CACNA1I, CACNA1G, CACNG3, CACNA1H, CACNA1A, CACNB4
30Transcription_CREB pathway419.8CACNB4, CACNA1G, CACNA1A, CACNG3, CACNA1I, CACNA1H
31Calpain Protease Regulates Cellular Mechanics369.8CACNA1G, CACNB4, CACNG3, CACNA1A, CACNA1I, CACNA1H
32Cellular Effects of Sildenafil369.8CACNA1G, CACNA1H, CACNG3, KCNT1, KCNK12, CACNB4
33PKC-Theta Pathway369.8CACNG3, CACNA1H, CACNA1G, CACNA1A, CACNA1I, CACNB4
34Neuroactive ligand-receptor interaction209.8TSPO, GABBR1, GABRD, GABRG2, GABRA1, GRIK2
35NFAT Signaling and Lymphocyte Interactions369.8CACNA1A, CACNA1I, CACNA1H, CACNG3, CACNB4, CACNA1G
36ITK and TCR Signaling369.7CACNA1H, CACNA1A, CACNB4, CACNA1I, CACNA1G, CACNG3
37Dopamine-DARPP32 Feedback onto cAMP Pathway369.7KCNQ2, KCNJ6, KCNJ9, KCNJ10, KCNQ3, CACNB4
38IGF1R Signaling369.6CACNA1G, CACNA1A, CACNA1H, CACNB4, CACNA1I, CACNG3
39Intracellular Calcium Signaling369.6CACNG3, CACNA1H, CACNA1A, CACNA1G, CACNB4, TRPC4
40Presenilin-Mediated Signaling369.6CACNA1H, CACNG3, CACNA1I, CACNA1A, CACNA1G, CACNB4
41all-trans-Retinoic Acid Signaling in Brain369.6CACNB4, CACNA1H, CACNA1I, CACNA1A, CACNA1G, CACNG3
42GHRH Signaling369.5CACNA1H, SCN2B, SCN9A, SCN8A, SCN1A, CACNB4
43G-Beta Gamma Signaling369.5CACNA1I, CACNA1H, CACNG3, CACNA1A, CACNA1G, CACNB4
44CREB Pathway369.5CACNA1H, CACNG3, CACNA1I, CACNA1A, CACNA1G, CACNB4
45TCR Signaling369.5CACNA1H, CACNG3, CACNA1A, CACNA1G, CACNB4, CACNA1I
46PKA Signaling369.4SCN8A, CACNA1H, CACNG3, CACNA1I, CACNA1A, CACNA1G
47Activation of cAMP-Dependent PKA369.4SCN2B, SCN1A, SCN8A, SCN9A, SCN1B, CACNA1G
48cAMP Pathway369.4CACNA1H, SCN1B, CACNA1G, CACNA1A, SCN9A, CACNG3
49Synaptic transmission- ion currents109.3KCNJ9, KCNMA1, KCNQ2, KCNQ3, SCN2A, SCN9A
50CRHR Pathway369.3CACNA1H, CACNG3, CACNA1I, CACNA1A, CACNA1G, CACNB4

Compounds for genes affiliated with Generalized Epilepsy

Sources:
42Tocris Bioscience, 32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB
See all sources

Compounds related to generalized epilepsy according to GeneDecks:

(show top 50)    (show all 94)
idCompoundScoreTop Affiliating Genes
1ralfinamide mesylate42 10.6SCN8A, SCN2A, SCN1B, SCN2B, SCN1A
2flecainide acetate42 10.6SCN1A, SCN1B, SCN2B, SCN8A, SCN2A
3qx 314 chloride42 10.6SCN2A, SCN8A, SCN2B, SCN1A, SCN1B
4tetrodotoxin citrate42 10.6SCN2A, SCN2B, SCN1A, SCN8A, SCN1B
5vinpocetine32 42 11.5SCN1A, SCN2B, SCN1B, SCN2A, SCN8A
6bromazepam32 9 9 12.5MAOA, GABRD, GABRG2, GABRA1, GABRB3
7Talbutal9 9 11.4GABRA1, GRIK2, CHRNA4, CHRNA7
8estazolam32 9 9 12.4TSPO, GABRG2, GABRA1, GABRB3, GABRD
9pentobarbital32 9 9 12.4GABRA1, GRIK2, CHRNA4, CHRNA7, GABBR1
10quazepam32 9 9 12.4GABRB3, GABRA1, GABRD, TSPO, GABRG2
11Barbituric acid derivative9 9 11.4GABRA1, GRIK2, CHRNA4, CHRNA7
12Clorazepate9 9 11.4GABRG2, GABRA1, GABRB3, GABRD, TSPO
13Butethal9 9 11.4GABRA1, GRIK2, CHRNA4, CHRNA7
14clobazam34 32 9 9 13.4GABRB3, GABRA1, GABRG2, GABRD, TSPO
15Butalbital9 9 11.4CHRNA7, CHRNA4, GABRA1, GRIK2
16lorazepam32 34 9 9 13.4TSPO, GABRD, GABRG2, GABRA1, GABRB3
17Metharbital9 9 11.4GABRA1, GRIK2, CHRNA4, CHRNA7
18Temazepam9 9 11.4TSPO, GABRB3, GABRA1, GABRG2, GABRD
19Heptabarbital9 9 11.3GABRA1, GRIK2, CHRNA4, CHRNA7
20alprazolam32 9 9 12.3GABRB3, GABRG2, GABRA1, MAOA, TSPO, GABRD
21chlordiazepoxide32 9 9 12.3GABRA1, GABRD, TSPO, GABRG2, GABRB3
22Butabarbital9 9 11.3GABRA1, GRIK2, CHRNA4, CHRNA7
23amobarbital32 9 9 12.3GRIK2, TSPO, GABRA1, CHRNA4, CHRNA7
24Aprobarbital9 9 11.3CHRNA7, CHRNA4, GRIK2, GABRA1
254-aminopyridine32 42 11.3KCNQ2, CACNA1A, KCNT1, KCNMA1, KCNMB3, KCNQ3
26clonazepam32 9 9 12.3GABRA1, GABRB3, GABRG2, MAOA, TSPO, GABBR1
27hypotaurine42 32 18 12.3GLRB, GLRA3, GAD2, GAD1
28Barbital9 9 11.3CHRNA7, CHRNA4, GRIK2, GABRA1
29muscimol32 42 11.1GABRA1, TSPO, GABBR1, GABRD, GABRG2, GAD1
30benzodiazepine32 10.1GABRG2, GABBR1, GAD1, MAOA, TSPO
31triazolam32 9 9 12.1GABRG2, GABRB3, GABRD, TSPO, GABRA1
32Methylphenobarbital9 9 11.0GABRA1, CHRNA4, CHRNA7, GRIK2
33zonisamide32 9 9 12.0SCN9A, CACNA1H, CACNA1I, CACNA1G, MAOA, SCN2B
34flurazepam32 9 9 11.9GABRB3, TSPO, GABRD, GABRG2, GABRA1, ABCB1
35Ketazolam9 9 10.9ABCB1, GABRA1, GABRD, TSPO
36nitrazepam32 9 9 11.9GABRA1, GABRB3, SCN1A, GABRG2, GABRD, TSPO
37midazolam32 9 9 11.9GABRB3, GABRA1, GABRD, TSPO, ABCB1, GABRG2
38mibefradil32 9 9 11.9CACNA1G, CACNA1I, CACNB4, ABCB1, CACNA1H
39diazepam32 34 9 9 12.8GABRB3, TSPO, ABCB1, GABBR1, GABRA1, GABRG2
40Secobarbital9 9 10.8GABRA1, GRIK2, CHRNA4, CHRNA7
41bicuculline32 9.8GABBR1, TSPO, CHRNA7, GAD1
42chlorine32 18 10.7GABRB3, GABRA1, GABRG2, GABRD, HCN2, GLRB
43acetylcholine32 9 18 9 12.6GAD2, TSPO, GABBR1, GAD1, KCNQ2, CACNA1A
44kainate32 9.5GRIK2, GRM4, TSPO, GAD2, GABBR1, SLC1A2
45gaba32 42 10.1GABBR1, GABRG2, GAD1, GABRA1, GABRB3, GAD2
46potassium32 9 18 9 12.1KCNJ9, KCNJ6, KCNMA1, KCNMB3, GAD1, GABRG2
47nmda32 42 9.9KCNMA1, GAD2, KCNJ6, CHRNA7, ARC, GRIK2
48glutamate32 8.6ATP1A2, HP, CACNA1A, ALDH5A1, MAOA, GRM4
49sodium32 18 9.5KCNQ3, KCNT2, SCN7A, SCN1B, SCN2A, SCN9A
50calcium32 9 18 9 10.1GRM4, CACNB4, GRIK2, ARSE, CHRNA7, SCN1B

GO Terms for genes affiliated with Generalized Epilepsy

Sources:
12Gene Ontology
See all sources

Cellular components related to generalized epilepsy according to GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1node of RanvierGO:03326810.3KCNQ2, SCN8A, KCNQ3, SCN2A
2acetylcholine-gated channel complexGO:00589210.3CHRNA4, CHRNB2, CHRNA7
3chloride channel complexGO:03470710.2GABRG2, CLCN2, GABRD, GLRA3, GLRB, GABRB3
4voltage-gated sodium channel complexGO:00151810.2SCN7A, SCN2B, SCN1A, SCN8A, SCN9A, SCN2A
5axon initial segmentGO:04319410.2SCN8A, KCNQ3, KCNQ2
6postsynaptic membraneGO:0452119.9GABBR1, ARC, ZACN, CHRNA4, CHRNB2, CHRNA7
7voltage-gated potassium channel complexGO:0080769.8KCNJ6, KCNMA1, KCNMB3, HCN2, KCNQ2, KCNQ3
8voltage-gated calcium channel complexGO:0058919.7CACNA1I, CACNB4, CACNA1G, CACNA1A, CACNG3, CACNA1H
9cell junctionGO:0300549.5GLRA3, GRIK2, ARC, CHRNA4, CHRNB2, CHRNA7
10axonGO:0304249.2SCN2A, GAD2, HCN2, HCN1, KCNJ6, ACADM
11integral to plasma membraneGO:0058879.0OPRM1, GABRG2, GABRD, GABRA1, GABBR1, SLC4A3
12plasma membraneGO:0058865.4SLC12A6, SLC4A3, OPRM1, STXBP1, SLC1A2, GABBR1

Biological processes related to generalized epilepsy according to GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarizationGO:05189910.5SCN1B, CACNA1A, CHRNB2, CHRNA4, CACNB4
2gamma-aminobutyric acid signaling pathwayGO:00721410.5GABRA1, GABRG2, GABBR1, CACNB4, CACNA1A
3gamma-aminobutyric acid secretionGO:01405110.5TRPC4, CACNA1A, CACNB4
4adult walking behaviorGO:00762810.5CACNB4, GLRB, CACNA1A, KCNJ10
5regulation of atrial cardiomyocyte membrane depolarizationGO:06037110.5CACNA1G, SCN2B, SCN1B
6response to nicotineGO:03509410.4CHRNA4, CHRNB2, CHRNA7, GABBR1
7sodium ion transportGO:00681410.4ATP1A2, SCN1A, SCN8A, SCN9A, SCN2A, SCN7A
8regulation of membrane potentialGO:04239110.4CACNA1G, GLRB, KCNMA1, CHRNA4, CACNA1H, HCN2
9ion transmembrane transportGO:03422010.4ATP1A2, GABRA1, GABRG2, GLRA3, GLRB, GABRB3
10cognitionGO:05089010.3CHRNA4, CHRNB2, CHRNA7
11regulation of action potential in neuronGO:01922810.3GRIK2, KCNMB3, SCN9A
12ion transportGO:00681110.2CHRNB2, CHRNA7, CHRNA4, GLRB, SLC4A3, SLC12A6
13calcium ion importGO:07050910.2CACNA1G, CACNA1H, TRPC4
14behavioral response to painGO:04826610.2SCN9A, CACNA1A, TSPO
15neurological system processGO:05087710.2CHRNB2, CHRNA4, GPR98
16neurotransmitter biosynthetic processGO:04213610.1GAD2, MAOA, GAD1
17receptor clusteringGO:04311310.0GRIK2, SYNGAP1, CACNA1A
18neurotransmitter secretionGO:0072699.9MAOA, STXBP1, GAD1, GAD2, GRM4, ALDH5A1
19glutamate decarboxylation to succinateGO:0065409.8GAD1, GAD2
20potassium ion transportGO:0068139.8KCNJ10, KCNMA1, KCNMB3, KCNQ2, KCNJ6, KCNQ3
21calcium ion transportGO:0068169.7CACNG3, CHRNB2, TRPC4, CHRNA7, CHRNA4, CACNA1I
22transmembrane transportGO:0550859.5SLC1A2, GABRA1, ATP1A2, GLRA3, GLRB, ABCB1
23axon guidanceGO:0074119.5PAX6, CACNB4, LGI1, ARX, CACNA1I, KCNQ2
24transportGO:0068109.4GABRB3, GRIK2, CACNA1H, CLCN2, CACNB4, ABCB1
25synaptic transmissionGO:0072687.4KCNJ6, ALDH5A1, MAOA, GRM4, GRIK2, CHRNA4

Molecular functions related to generalized epilepsy according to GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:00489010.4GABRB3, GABRA1, GABRD, GABRG2
2extracellular ligand-gated ion channel activityGO:00523010.4GABRG2, GABRD, GLRA3, ZACN, GABRA1, GABRB3
3voltage-gated sodium channel activityGO:00524810.4SCN7A, SCN2A, SCN9A, SCN1A, SCN8A
4acetylcholine-activated cation-selective channel activityGO:00488910.3CHRNA4, CHRNB2, CHRNA7
5low voltage-gated calcium channel activityGO:00833210.2CACNA1H, CACNA1I, CACNA1G
6potassium channel activityGO:00526710.2KCNK12, KCNQ3, KCNQ2, HCN1
7acetylcholine receptor activityGO:01546410.2CHRNA4, CHRNB2, CHRNA7
8voltage-gated potassium channel activityGO:00524910.2KCNQ2, HCN2, HCN1, KCNQ3, KCNMA1
9acetylcholine bindingGO:04216610.0CHRNA7, CHRNB2, CHRNA4
10voltage-gated calcium channel activityGO:0052459.7CACNA1A, CACNA1I, CACNG3, CACNB4

Sources for Generalized Epilepsy

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS