epileptic Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures (Experimental Factor Ontology, EFO_0000474)
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Genes

82 genes co-occuring with the biological term epileptic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ADGRV1 adhesion G protein-coupled receptor V1
ARX aristaless related homeobox
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
BDNF brain-derived neurotrophic factor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CASR calcium-sensing receptor
CD34 CD34 molecule
CDK5 cyclin-dependent kinase 5
CDKL5 cyclin-dependent kinase-like 5
CHD2 chromodomain helicase DNA binding protein 2
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CNR1 cannabinoid receptor 1 (brain)
CREB1 cAMP responsive element binding protein 1
CST3 cystatin C
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DLGAP2 discs, large (Drosophila) homolog-associated protein 2
DNM1 dynamin 1
DOCK7 dedicator of cytokinesis 7
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GHRL ghrelin/obestatin prepropeptide
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GLUL glutamate-ammonia ligase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GSN gelsolin
GSTA1 glutathione S-transferase alpha 1
GSTM1 glutathione S-transferase mu 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HLA-B major histocompatibility complex, class I, B
INSR insulin receptor
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
LAMB1 laminin, beta 1
LGI4 leucine-rich repeat LGI family, member 4
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUSK muscle, skeletal, receptor tyrosine kinase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
ND1
NECAP1 NECAP endocytosis associated 1
NES nestin
NFE2L2 nuclear factor, erythroid 2-like 2
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NUCB2 nucleobindin 2
OPRM1 opioid receptor, mu 1
PANX1 pannexin 1
PCDH19 protocadherin 19
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNOC prepronociceptin
PNPO pyridoxamine 5'-phosphate oxidase
PRL prolactin
PRRT2 proline-rich transmembrane protein 2
PVALB parvalbumin
RALGAPA1 Ral GTPase activating protein, alpha subunit 1 (catalytic)
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11
STIM1 stromal interaction molecule 1
STIM2 stromal interaction molecule 2
STXBP1 syntaxin binding protein 1
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
TBC1D24 TBC1 domain family, member 24
TSC2 tuberous sclerosis 2
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6