seizures Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. (Human Phenotype Ontology, HP_0001250)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002064
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Genes

279 gene mutations causing the seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ACP2 acid phosphatase 2, lysosomal
ADAM22 ADAM metallopeptidase domain 22
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADARB1 adenosine deaminase, RNA-specific, B1
ADGRV1 adhesion G protein-coupled receptor V1
ADRA2A adrenoceptor alpha 2A
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKAP5 A kinase (PRKA) anchor protein 5
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
AMPH amphiphysin
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
AP3B2 adaptor-related protein complex 3, beta 2 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
AP3M2 adaptor-related protein complex 3, mu 2 subunit
APC2 adenomatosis polyposis coli 2
APOE apolipoprotein E
ARX aristaless related homeobox
ASPA aspartoacylase
ATAD1 ATPase family, AAA domain containing 1
ATCAY ataxia, cerebellar, Cayman type
ATOX1 antioxidant 1 copper chaperone
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRN attractin
ATXN7 ataxin 7
AVPR1B arginine vasopressin receptor 1B
BCKDK branched chain ketoacid dehydrogenase kinase
BHLHE40 basic helix-loop-helix family, member e40
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSN bassoon presynaptic cytomatrix protein
C1QA complement component 1, q subcomponent, A chain
CA7 carbonic anhydrase VII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDKL5 cyclin-dependent kinase-like 5
CDKN2A cyclin-dependent kinase inhibitor 2A
CELF4 CUGBP, Elav-like family member 4
CERS1 ceramide synthase 1
CFL1 cofilin 1 (non-muscle)
CHN1 chimerin 1
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal)
CIT citron rho-interacting serine/threonine kinase
CKB creatine kinase, brain
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNR1 cannabinoid receptor 1 (brain)
CNTN2 contactin 2 (axonal)
CNTN5 contactin 5
CNTNAP2 contactin associated protein-like 2
CNTNAP4 contactin associated protein-like 4
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CPLX1 complexin 1
CREBBP CREB binding protein
CREM cAMP responsive element modulator
CSTB cystatin B (stefin B)
CTSD cathepsin D
DBNL drebrin-like
DGKD diacylglycerol kinase, delta 130kDa
DGKE diacylglycerol kinase, epsilon 64kDa
DMTF1 cyclin D binding myb-like transcription factor 1
DNM1 dynamin 1
DRD2 dopamine receptor D2
DSCAM Down syndrome cell adhesion molecule
DST dystonin
EFHC1 EF-hand domain (C-terminal) containing 1
ELAVL3 ELAV like neuron-specific RNA binding protein 3
ELFN1 extracellular leucine-rich repeat and fibronectin type III domain containing 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FAIM2 Fas apoptotic inhibitory molecule 2
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGF14 fibroblast growth factor 14
FGF22 fibroblast growth factor 22
FGF7 fibroblast growth factor 7
FMR1 fragile X mental retardation 1
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD9 frizzled class receptor 9
G6PC glucose-6-phosphatase, catalytic subunit
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GAL galanin/GMAP prepropeptide
GAN gigaxonin
GDI1 GDP dissociation inhibitor 1
GFAP glial fibrillary acidic protein
GFRA2 GDNF family receptor alpha 2
GLRA1 glycine receptor, alpha 1
GLRA3 glycine receptor, alpha 3
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNG3 guanine nucleotide binding protein (G protein), gamma 3
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIK5 glutamate receptor, ionotropic, kainate 5
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM5 glutamate receptor, metabotropic 5
GRM7 glutamate receptor, metabotropic 7
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCRTR1 hypocretin (orexin) receptor 1
HDAC4 histone deacetylase 4
HELT helt bHLH transcription factor
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRH2 histamine receptor H2
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IL6 interleukin 6
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JUN jun proto-oncogene
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2
KCNH3 potassium channel, voltage gated eag related subfamily H, member 3
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNK2 potassium channel, two pore domain subfamily K, member 2
KCNMB4 potassium channel subfamily M regulatory beta subunit 4
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCTD10 potassium channel tetramerization domain containing 10
KLK8 kallikrein-related peptidase 8
LGI1 leucine-rich, glioma inactivated 1
LHX6 LIM homeobox 6
LPPR4 lipid phosphate phosphatase-related protein type 4
MAPK10 mitogen-activated protein kinase 10
MAPT microtubule-associated protein tau
MBP myelin basic protein
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCOLN3 mucolipin 3
MECP2 methyl CpG binding protein 2
MIR128-2 microRNA 128-2
MSX2 msh homeobox 2
MT3 metallothionein 3
MYO5A myosin VA (heavy chain 12, myoxin)
NAPB N-ethylmaleimide-sensitive factor attachment protein, beta
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NETO1 neuropilin (NRP) and tolloid (TLL)-like 1
NEU1 sialidase 1 (lysosomal sialidase)
NEUROD1 neuronal differentiation 1
NEUROD2 neuronal differentiation 2
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NID1 nidogen 1
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS4 neuronal PAS domain protein 4
NPY neuropeptide Y
NPY2R neuropeptide Y receptor Y2
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRP2 neuropilin 2
OPRD1 opioid receptor, delta 1
OTC ornithine carbamoyltransferase
OTX1 orthodenticle homeobox 1
P2RX6 purinergic receptor P2X, ligand gated ion channel, 6
PAH phenylalanine hydroxylase
PANX1 pannexin 1
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDE8A phosphodiesterase 8A
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDYN prodynorphin
PITPNA phosphatidylinositol transfer protein, alpha
PLAUR plasminogen activator, urokinase receptor
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLCL1 phospholipase C-like 1
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R9B protein phosphatase 1, regulatory subunit 9B
PPT1 palmitoyl-protein thioesterase 1
PPT2 palmitoyl-protein thioesterase 2
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PSAP prosaposin
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRO protein tyrosine phosphatase, receptor type, O
PURA purine-rich element binding protein A
QKI QKI, KH domain containing, RNA binding
RAI1 retinoic acid induced 1
RND3 Rho family GTPase 3
RYR2 ryanodine receptor 2 (cardiac)
S1PR2 sphingosine-1-phosphate receptor 2
SCG5 secretogranin V
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2B sodium channel, voltage gated, type II beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SEZ6 seizure related 6 homolog (mouse)
SGCE sarcoglycan, epsilon
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC10A4 solute carrier family 10, member 4
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNAP25 synaptosomal-associated protein, 25kDa
SOD2 superoxide dismutase 2, mitochondrial
SOX1 SRY (sex determining region Y)-box 1
SOX2 SRY (sex determining region Y)-box 2
SPTBN2 spectrin, beta, non-erythrocytic 2
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
STX1B syntaxin 1B
SUMF1 sulfatase modifying factor 1
SV2A synaptic vesicle glycoprotein 2A
SV2B synaptic vesicle glycoprotein 2B
SYN1 synapsin I
SYN2 synapsin II
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SZT2 seizure threshold 2 homolog (mouse)
TAL2 T-cell acute lymphocytic leukemia 2
TCF12 transcription factor 12
TECTA tectorin alpha
TEF thyrotrophic embryonic factor
THRB thyroid hormone receptor, beta
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TPP1 tripeptidyl peptidase I
TRIM2 tripartite motif containing 2
TRIM3 tripartite motif containing 3
TRPC5 transient receptor potential cation channel, subfamily C, member 5
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TYRO3 TYRO3 protein tyrosine kinase
UBE3A ubiquitin protein ligase E3A
UNC13B unc-13 homolog B (C. elegans)
USF1 upstream transcription factor 1
USF2 upstream transcription factor 2, c-fos interacting
USP18 ubiquitin specific peptidase 18
VCP valosin containing protein
ZNF24 zinc finger protein 24