MCID: INT118

Intractable Epilepsy malady

Summaries for Intractable Epilepsy

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22MalaCards
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MalaCards: Intractable Epilepsy, also known as refractory epilepsy, is related to tuberous sclerosis and generalized epilepsy with febrile seizures plus. An important gene associated with Intractable Epilepsy is HSPBAP1 (HSPB (heat shock 27kDa) associated protein 1), and among its related pathways are Signal transduction_PTEN pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. The compounds carbamazepine and threonine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and monocytes, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Aliases & Descriptions for Intractable Epilepsy

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8DISEASES, 43UMLS
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intractable epilepsy 8
refractory epilepsy 43

Related Diseases for Intractable Epilepsy

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

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis29.7TSC1, TSC2
2generalized epilepsy with febrile seizures plus28.9SCN2A, SCN1A, ARX, ABCB1
3dysembryoplastic neuroepithelial tumor28.9GRIN1, ABCC2, ABCC5, ABCG2, GFAP, NES
4focal cortical dysplasia27.6VEGFA, CDK5, GRIN1, GRM5, SV2A, GFAP
5temporal lobe epilepsy27.1BDNF, GRIN1, GRM1, GRM5, NTRK2, ABCB1
6thyroiditis21.6VEGFA, LAMB1, CDK5, INSR, GSR, MED1
7neuronitis18.6VEGFA, BLVRB, BDNF, SCN2A, SCN1A, LAMB1
8early myoclonic encephalopathy13.6SCN1A, CDKL5, ARX
9epilepsy with generalized tonic-clonic seizures13.6SCN2A, SCN1A
10seizure disorder13.5SCN2A, SCN1A, CDKL5
11subependymoma13.5TSC2, NES
12lymphangioleiomyomatosis13.4TSC1, TSC2
13infantile epileptic encephalopathy13.4CDKL5, ARX, TSC1, TSC2
14focal epilepsy13.3SCN1A, GRIN1, TSC1, TSC2
15aicardi-goutieres syndrome13.3SCN1A, CDKL5, ARX, TSC2
16subependymal giant cell astrocytoma13.2GFAP, TSC1, TSC2, NES
17pulmonary plasma cell granuloma13.2GRIN1, ABCC2, ABCG2, TSC2
18epilepsies, partial13.1SCN1A, GRM1, GRM5, TSC1
19severe myoclonic epilepsy of infancy (smei)13.1SCN2A, SCN1A
20cystic kidney13.0MAPK1, TSC1, TSC2
21hydrocephalus13.0BDNF, AQP1, GFAP, TSC1, NES
22convulsions13.0BLVRB, BDNF, SCN2A, SCN1A, GRM5
23anaplastic ganglioglioma13.0GFAP, NES
24polycystic kidney disease, autosomal dominant12.9AQP1, MAPK1, TSC1, TSC2
25drug addiction12.9BDNF, GRM5, MAPK1
26ring chromosome 712.9EGFR, GFAP
27autism spectrum disorder12.8BDNF, LAMB1, GFAP, TSC1, TSC2, SLC6A8
28angiofibroma12.8VEGFA, GFAP, TSC1, TSC2
29autistic disorder12.8BDNF, CDKL5, ARX, GRM5, TSC1, TSC2
30mental retardation syndrome12.8BDNF, CDKL5, ARX, GRM5, TSC1, TSC2
31prion disease12.8BDNF, CDK5, GRIA2, NTRK2, GFAP
32central neurocytoma12.8GFAP, NES
33pleomorphic xanthoastrocytoma12.7EGFR, GFAP, TSC1
34polycystic kidney disease12.7MAPK1, TSC1, TSC2
35albinism12.7BLVRB, GSR, GRM1, GRM5, GFAP
36hemangioma of lung12.7EGFR, TSC1, TSC2
37neuroectodermal tumors12.7MAPK3, NTRK2, EIF2AK3, GFAP, NES
38vascular malformations12.7VEGFA, CCL2, NES
39peutz-jeghers syndrome12.6EGFR, TSC1, TSC2, STRADA
40benign tumors12.6MAPK3, MAPK1, TSC1, TSC2
41fragile x syndrome12.6BDNF, GRM1, GRM5, MAPK1, SLC6A8
42kidney cancer12.5VEGFA, AQP1, ABCB1, ABCC2, TSC2
43central nervous system lymphoma12.5VEGFA, CCL2, ABCC2, ABCG2
44cerebral artery occlusion12.5VEGFA, BDNF, MAPK1, NES
45central nervous system disease12.5BDNF, GRM1, GRM5, CCL2, GFAP
46mesangial proliferative glomerulonephritis12.5VEGFA, MAPK1, CCL2
47chordoma12.5VEGFA, ABCB1, GFAP, TSC1
48idiopathic interstitial pneumonia12.5VEGFA, BDNF, CCL2
49pick's disease12.4BDNF, GRM1, MAPK3, MAPK1
50photosensitive trichothiodystrophy12.4BDNF, INSR, GSR, ABCB1, GFAP

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



Graphical network of diseases related to intractable epilepsy

Clinical Features for Intractable Epilepsy

Drugs & Therapeutics for Intractable Epilepsy

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

Search CenterWatch for intractable epilepsy

Drug clinical trials:

Search ClinicalTrials for intractable epilepsy

Search NIH Clinical Center for intractable epilepsy

Search CenterWatch for intractable epilepsy

Genetic Tests for Intractable Epilepsy

Anatomical Context for Intractable Epilepsy

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22MalaCards
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MalaCards organs/tissues related to intractable epilepsy:

22
Brain, Cortex, Monocytes, Temporal lobe

Phenotypes for genes affiliated with Intractable Epilepsy

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25MGI
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Publications for genes affiliated with Intractable Epilepsy

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35PubMed
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Articles related to intractable epilepsy:

(show all 28)
idTitleAuthorsYearAffiliating Genes
1Association analysis of intractable epilepsy with C34 35T and G2677T/A ABCB1 gene polymorphisms in Iranian patients. (21636342)Sayyah M.... Shamshiri A.R.2011ABCB1
2Treatment of intractable epilepsy in a female with SL C6A8 deficiency. (20846889)Mercimek-Mahmutoglu S.... Stockler-Ipsiroglu S.2010SLC6A8
3Increased insulin receptor expression in anterior tem poral neocortex of patients with intractable epilepsy. (20624623)Wang L.... Wang X.2010INSR
4De novo mutations of voltage-gated sodium channel alp haII gene SCN2A in intractable epilepsies. (19786696)Ogiwara I.... Yamakawa K.2009SCN2A
5Gene expression analysis on anterior temporal neocort ex of patients with intractable epilepsy. (19623530)Xi Z.Q.... Liu G.W.2009CDK5, MED1
6Re: CDKL5 mutations in boys with severe encephalopath y and early-onset intractable epilepsy. (19564592)Fichou Y.... Bienvenu T.2009CDKL5
7Nestin in the temporal neocortex of the intractable epilepsy patients. (18719994)Wang L.... Xiao Z.2009NES
8Down-regulation synaptic vesicle protein 2A in the an terior temporal neocortex of patients with intractable epilepsy. (19757204)Feng G.... Wang X.2009SV2A
9Up-regulation of epithelial membrane protein-1 in the temporal neocortex of patients with intractable epilepsy. (19288191)Li Y.Q.... Yao L.2009EGFR, EMP1
10Increased expression of aquaporin-1 in the anterior temporal neocortex of patients with intractable epilepsy. (18544259)Zhou S.... Liu K.2008AQP1
11Research on distribution and expression of NMDA receptors and parvalbumin-positive neurons in intractable epilepsy-related focal cortical dysplasia (18509979)Liu L.... Lu D.H.2008GRIN1
12Expression of monocyte chemoattractant protein-1 in brain tissue of patients with intractable epilepsy. (18402383)Wu Y.... Zhang J.2008CCL2
13CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. (18809835)Elia M.... Fichera M.2008CDKL5
14Expression of laminin beta1 in hippocampi of patients with intractable epilepsy. (18691630)Wu Y.... Zheng J.O.2008LAMB1
15Altered distribution of KCC2 in cortical dysplasia in patients with intractable epilepsy. (17284302)Munakata M.... Tsuchiya S.2007SLC12A5
16NADPH diaphorase reactive neurons in temporal lobe cortex of patients with intractable epilepsy and hippocampal sclerosis. (17412562)D'Alessio L.... Zieher L.M.2007BLVRB
17TDAG51 in the anterior temporal neocortex of patients with intractable epilepsy. (17870236)Xi Z.Q.... Wang X.F.2007PHLDA1
18HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy. (17568411)Xi Z.Q.... Guan L.F.2007HSPBAP1
19Extracellular signal-regulated protein kinase in human intractable epilepsy. (17662006)Xi Z.Q.... Guan L.F.2007MAPK3, MAPK1, EIF2AK3
20Expression of multidrug resistance type 1 gene (MDR1) P-glycoprotein in intractable epilepsy with different aetiologies: a double-labelling and electron microscopy study. (16998727)Chengyun D.... Qunyuan X.2006ABCB1, GFAP
21Potential role of drug transporters in the pathogenesis of medically intractable epilepsy. (15679503)Kwan P.... Brodie M.J.2005ABCB1
22A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. (15028761)Kamiya K.... Yamakawa K.2004SCN1A, SCN2A
23Expression of multidrug transporters in dysembryoplastic neuroepithelial tumors causing intractable epilepsy. (15581025)Vogelgesang S.... Warzok R.W.2004ABCG2, ABCC2, ABCC5
24A case of intractable epilepsy: diagnosis of tuberous sclerosis based on histopathological findings and immunohistochemical expression of hamartin and tuberin (11808208)Takaishi Y.... Shimizu H.2002TSC1, TSC2
25Expression of brain-derived neurotrophic factor and tyrosine kinase B receptor proteins in glioneuronal tumors from patients with intractable epilepsy: colocalization with N-methyl-D-aspartic acid receptor. (11355310)Aronica E.... Troost D.2001NTRK2, GRIN1, BDNF
26Ionotropic and metabotropic glutamate receptor protein expression in glioneuronal tumours from patients with intractable epilepsy. (11489142)Aronica E.... Troost D.2001GRIN1, GSR, GRM5
27Vascular abnormalities in surgical specimens obtained from the resected focus of intractable epilepsy. (11310919)Hodozuka A.... Tanaka T.2000VEGFA
28MDR1 gene expression in brain of patients with medically intractable epilepsy. (8001500)Tishler D.M.... Raffel C.1995ABCB1

Expression for genes affiliated with Intractable Epilepsy

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Intractable Epilepsy

Pathways for genes affiliated with Intractable Epilepsy

Sources:
41Thomson Reuters, 10EMD Millipore, 36QIAGEN, 34PharmGKB, 20KEGG, 3Cell Signaling Technology
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Pathways related to intractable epilepsy according to GeneDecks:

(show top 50)    (show all 87)
idPathwayScoreTop Affiliating Genes
1Signal transduction_PTEN pathway4110.4TSC2
2Regulation of lipid metabolism Insulin signaling-generic cascades1010.3MAPK3
3CDK5 Pathway3610.1NTRK2, LAMB1, BDNF, CDK5
4Pravastatin Pathway, Pharmacokinetics3410.0ABCG2, ABCB1, ABCC2
5Translation _Regulation of EIF2 activity4110.0INSR, MAPK1
6Methotrexate Pathway, Pharmacokinetics349.9ABCG2, ABCC2, ABCB1
7Glutamic acid signaling109.9GRM1, GRM5, GRIA2, GRIN1
8Taxane Pathway, Pharmacokinetics349.9ABCB1, ABCC2, ABCG2
9Irinotecan Pathway, Pharmacokinetics349.9ABCB1, ABCG2, ABCC2
10Irinotecan Pathway, Pharmacodynamics349.9ABCG2, ABCC2, ABCB1
11ABC transporters209.8ABCB1, ABCC2, ABCC5, ABCG2
12Erlotinib Pathway, Pharmacokinetics349.7EGFR, ABCB1, ABCG2
13Transcription PPAR Pathway109.6MAPK3, MAPK1, MED1
14Transcription Receptor-mediated HIF regulation109.4TSC2, MAPK1, MAPK3, INSR
15BDNF Pathway369.4MAPK3, NTRK2, MAPK1, BDNF
16Development_Neurotrophin family signaling419.3BDNF, MAPK3, MAPK1, NTRK2
17Development Neurotrophin family signaling109.3MAPK1, NTRK2, MAPK3, BDNF
18Transcription_PPAR Pathway419.3MAPK1, MED1, INSR, MAPK3
19Alzheimers disease209.3MAPK1, EIF2AK3, GRIN1, CDK5, ATP5H, MAPK3
20Translation_Insulin regulation of translation419.3MAPK1, TSC2, INSR, TSC1, MAPK3
21Long-term depression209.1MAPK1, MAPK3, GRM5, GRIA2, GRM1
22Regulation of lipid metabolism_Insulin signaling-generic cascades419.1MAPK3, INSR, TSC2, MAPK1
23Long-term potentiation209.0GRIA2, GRIN1, GRM1, MAPK3, GRM5, MAPK1
24Translation _Regulation of EIF4F activity419.0EGFR, MAPK1, TSC1, MAPK3, TSC2
25Alzheimers Disease Pathway369.0INSR, MAPK1, EGFR, CDK5, NTRK2
26Glutamatergic synapse209.0MAPK1, GRM5, GRIA2, GRM1, GRIN1, MAPK3
27Glioblastoma Multiforme369.0TSC1, TSC2, MAPK3, MAPK1, EGFR
28Neuroscience39.0NTRK2, GFAP, SYT1, GRIN1, CDK5, GRM1
29mTOR Pathway369.0MAPK3, BDNF, TSC2, TSC1, INSR, MAPK1
30Signal transduction PTEN pathway109.0MAPK3, EGFR, TSC2, MAPK1
31Translation Regulation activity of EIF2108.9EIF2AK3, MAPK1, INSR, MAPK3, EGFR
32Development Endothelin-1/EDNRA transactivation of EGFR108.8MAPK1, MAPK3, TSC2, EGFR
33Gap junction208.8MAPK3, GRM1, MAPK1, EGFR, GRM5
34Development_Endothelin-1/EDNRA transactivation of EGFR418.8MAPK1, EGFR, TSC2, MAPK3
35mTOR signaling pathway208.7TSC2, TSC1, MAPK3, VEGFA, MAPK1, STRADA
36Transcription_Receptor-mediated HIF regulation418.6MAPK1, TSC2, VEGFA, MAPK3, INSR
37Bladder cancer208.5VEGFA, MAPK3, MAPK1, EGFR
38Nanog in Mammalian ESC Pluripotency368.5INSR, MAPK3, MAPK1, NTRK2, EGFR, BDNF
39Development VEGF signaling via VEGFR2 - generic cascades108.5VEGFA, CCL2, MAPK3, MAPK1
40eIF2 Pathway368.4NTRK2, MAPK1, EIF2AK3, EGFR, MAPK3, INSR
41GSK3 Signaling368.4BDNF, INSR, EIF2AK3, MAPK3, EGFR, MAPK1
42Neuropathic Pain-Signaling in Dorsal Horn Neurons368.4SCN1A, BDNF, NTRK2, MAPK1, MAPK3, GRM5
4314-3-3 Induced Intracellular Signaling368.3BDNF, TSC1, EGFR, NTRK2, MAPK1, MAPK3
44Molecular Mechanisms of Cancer368.2TSC2, TSC1, EGFR, INSR, BDNF, NTRK2
45CREB Pathway368.1NTRK2, BDNF, EGFR, MAPK1, GRIA2, MAPK3
46Endothelin-1 Signaling Pathway368.1INSR, MAPK3, MAPK1, EGFR, NTRK2
47p70S6K Signaling368.1BDNF, MAPK3, MAPK1, NTRK2, EGFR, INSR
48Renin-Angiotensin Pathway368.0NTRK2, CCL2, MAPK1, MAPK3, EGFR, BDNF
49JAK-STAT Pathway367.9EGFR, CCL2, NTRK2, MAPK1, INSR, MAPK3
50Rho Family GTPases367.6LAMB1, GFAP, EGFR, NTRK2, CCL2, MAPK3

Compounds for genes affiliated with Intractable Epilepsy

Sources:
32Novoseek , 34PharmGKB, 9DrugBank, 42Tocris Bioscience, 18HMDB
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Compounds related to intractable epilepsy according to GeneDecks:

(show top 50)    (show all 167)
idCompoundScoreTop Affiliating Genes
1carbamazepine32 34 9 9 13.0GSR, SCN1A
2threonine32 9.8GRM5, SYT1, CDK5
3gnrh32 9.8NTRK2, BLVRB, CCL2, NES
4n acetylcysteine32 9.8EGFR, CDK5, ABCC2, BDNF
5mk 57132 42 10.7ABCG2, ABCC2, ABCC5, ABCB1
6alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid32 9.5GRM5, GRM1, GRIA2, GRIN1, BDNF, GSR
7glucose32 9.4AQP1, TSC1, CDK5, TSC2, LAMB1, BLVRB
8oatp32 9.3ABCG2, ABCB1, MAPK3, ABCC2
9cocaine32 9 9 11.2GFAP, GRM5, GRIN1, GRIA2, GSR, CDK5
10arsenic trioxide34 9 9 11.1ABCC2, ABCB1, MAPK1, MAPK3
11morphine32 9 9 11.0ABCB1, MAPK3, GRIN1, GRIA2, CDK5, ABCC2
12alanine32 9.0EMP1, ARX, INSR, MED1, MAPK3, ABCG2
13ly29400232 8.7CCL2, TSC2, MAPK1, VEGFA
14aspartate32 8.7NTRK2, GFAP, SYT1, GRM5, GRM1, GSR
15sunitinib32 9 9 10.6ABCG2, ABCC2, VEGFA, ABCB1, EGFR
16taxane32 8.6ABCG2, ABCC2, ABCB1, EGFR, VEGFA
17kainate32 8.6GRIA2, BDNF, BLVRB, GSR, GRM1, GRIN1
18arginine32 8.5GSR, SLC6A8, GFAP, ABCC2, MAPK3, GRIA2
19rapamycin32 42 9.5EGFR, TSC2, BDNF, CDK5, EIF2AK3, VEGFA
20carboplatin32 34 9 9 11.3EGFR, ABCG2, ABCC2, GSR, VEGFA, ABCB1
21quercetin32 42 9 18 9 12.3MAPK1, MAPK3, ABCC2, ABCB1, GSR, GFAP
22oxygen32 18 9.2GFAP, EIF2AK3, NTRK2, MAPK1, GRIN1, BLVRB
23topotecan32 9 9 10.2ABCB1, VEGFA, EGFR, ABCG2, ABCC2
24dopamine32 9 18 9 11.1NES, BLVRB, GRM1, GRM5, INSR, GRIN1
25erlotinib32 34 9 9 11.0VEGFA, MAPK1, EGFR, ABCB1, ABCG2
26sorafenib32 9 9 9.9ABCB1, ABCC2, ABCG2, EIF2AK3, VEGFA, EGFR
27doxorubicin32 34 9 9 10.7VEGFA, BDNF, GSR, EGFR, ABCB1, ABCC2
28gaba32 42 8.7SYT1, NES, SLC12A5, GFAP, NTRK2, SV2A
29paraffin32 7.7VEGFA, BLVRB, AQP1, EGFR, TSC1, TSC2
30phosphoinositide32 7.6GRM1, TSC2, BDNF, NTRK2, EGFR, MAPK3
31gefitinib32 34 9 9 10.5VEGFA, EMP1, ABCB1, MAPK1, EGFR, MAPK3
32nitric oxide32 9 18 9 10.5BLVRB, GRIN1, GRM5, GRM1, CCL2, AQP1
33forskolin32 42 9 9 10.5NTRK2, ABCB1, MAPK1, MAPK3, SYT1, BDNF
34ang ii32 7.3EGFR, CCL2, MAPK1, MAPK3, VEGFA
35pd 98,05932 7.2MAPK1, CCL2, MAPK3, INSR, CDK5, BDNF
36testosterone32 9 18 9 10.2BDNF, ABCG2, INSR, BLVRB, CCL2, NTRK2
37phosphatidylinositol32 7.1EGFR, CCL2, INSR, GRIN1, MAPK3, MAPK1
38curcumin32 7.1MAPK3, ABCB1, EGFR, ABCG2, CCL2, MAPK1
39lipid32 7.0ABCG2, NES, GFAP, TSC2, ABCC2, SYT1
40paclitaxel32 34 9 9 9.9GFAP, ABCG2, ABCC2, ABCB1, EGFR, MAPK1
41glutamate32 6.8MAPK1, MAPK3, ABCC2, SYT1, SLC12A5, NES
42nmda32 42 7.8GSR, GFAP, NTRK2, CCL2, MAPK1, BDNF
43calcium32 9 18 9 9.7SV2A, NTRK2, ABCG2, SYT1, SLC12A5, EIF2AK3
44cycloheximide32 6.5MAPK1, VEGFA, MAPK3, INSR, BDNF, ABCC2
45serine32 6.3EIF2AK3, NTRK2, CCL2, GFAP, TSC1, TSC2
46genistein32 9 18 9 9.3ABCG2, ABCB1, EGFR, CCL2, MAPK1, GSR
47vegf32 6.2NES, MAPK3, VEGFA, BDNF, INSR, AQP1
48estrogen32 6.0VEGFA, BDNF, INSR, GFAP, EIF2AK3, ABCG2
49cisplatin32 34 9 9 8.9MAPK3, ABCC5, ABCG2, GFAP, NTRK2, ABCC2
50tyrosine32 4.4MAPK1, ABCG2, CDK5, EGFR, NTRK2, SLC12A5

GO Terms for genes affiliated with Intractable Epilepsy

Sources:
12Gene Ontology
See all sources

Cellular components related to intractable epilepsy according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.1TSC1, TSC2
2growth coneGO:0304269.6TSC1, NTRK2, GRIA2, CDK5
3postsynaptic densityGO:0140699.5CDK5, GRIA2, GRIN1, GRM1, NTRK2
4integral to plasma membraneGO:0058878.3AQP1, SLC6A8, ABCC5, ABCC2, SCN2A, NTRK2
5membraneGO:0160207.6TSC1, ABCC5, ABCB1, EGFR, INSR, CDK5
6plasma membraneGO:0058866.2EMP1, GRIN1, GRIA2, INSR, CDK5, AQP1

Biological processes related to intractable epilepsy according to GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1activation of MAPKK activityGO:00018610.4GRM1
2neuron migrationGO:0017649.8NTRK2, ARX, CDKL5, CDK5
3sensory perception of painGO:0192339.8MAPK3, CDK5, GRIN1, GRM1
4glutamate secretionGO:0140479.7SYT1, BDNF, NTRK2
5regulation of early endosome to late endosome transportGO:20006419.5MAPK3, MAPK1
6caveolin-mediated endocytosisGO:0725849.4MAPK3, MAPK1
7activation of protein kinase activityGO:0321479.4STRADA, INSR, VEGFA
8transportGO:0068109.4SLC12A5, SLC6A8, ABCG2, ABCC5, ABCC2, ABCB1
9regulation of Golgi inheritanceGO:0901709.2MAPK3, MAPK1
10protein autophosphorylationGO:0467779.2EIF2AK3, EGFR, INSR, CDKL5, CDK5, NTRK2
11insulin receptor signaling pathwayGO:0082869.0INSR, MAPK3, MAPK1, TSC1, TSC2, STRADA
12activation of MAPK activityGO:0001879.0MAPK3, GRM1, INSR, MAPK1
13response to drugGO:0424938.9ABCG2, ABCB1, AQP1, BDNF, NES, CCL2
14MAPK cascadeGO:0001658.6EGFR, CCL2, MAPK1, MAPK3
15axon guidanceGO:0074118.6BDNF, EGFR, MAPK1, MAPK3, ARX, CDK5
16synaptic transmissionGO:0072688.5GRM1, SYT1, SLC12A5, MAPK1, GRM5, CDK5

Molecular functions related to intractable epilepsy according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transporter activityGO:02285710.0SV2A, AQP1, ATP5H
2ATPase activity, coupled to transmembrane movement of substancesGO:0426269.9ABCC2, ABCC5, ABCG2
3xenobiotic-transporting ATPase activityGO:0085599.8ABCG2, ABCB1
4glutamate receptor activityGO:0080669.8GRM1, GRM5, GRIA2
5protein kinase activityGO:0046729.1EIF2AK3, STRADA, CCL2, CDKL5, CDK5
6ATP bindingGO:0055246.9ABCC5, EIF2AK3, ABCG2, ABCC2, ABCB1, EGFR

Sources for Intractable Epilepsy

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