convulsive seizures Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description seizures characterized by uncontrolled motor activity (Mammalian Phenotype Ontology, MP_0000947)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000947
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Genes

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

Symbol Name
ACP2 acid phosphatase 2, lysosomal
ADAM22 ADAM metallopeptidase domain 22
ADGRV1 adhesion G protein-coupled receptor V1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
AMPH amphiphysin
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
AP3B2 adaptor-related protein complex 3, beta 2 subunit
ARX aristaless related homeobox
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN7 ataxin 7
BCKDK branched chain ketoacid dehydrogenase kinase
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSN bassoon presynaptic cytomatrix protein
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CELF4 CUGBP, Elav-like family member 4
CHN1 chimerin 1
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CIT citron rho-interacting serine/threonine kinase
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN5 contactin 5
CSTB cystatin B (stefin B)
CTSD cathepsin D
DBNL drebrin-like
DGKE diacylglycerol kinase, epsilon 64kDa
DNM1 dynamin 1
EFHC1 EF-hand domain (C-terminal) containing 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FMR1 fragile X mental retardation 1
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FYN FYN proto-oncogene, Src family tyrosine kinase
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GNG3 guanine nucleotide binding protein (G protein), gamma 3
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HDAC4 histone deacetylase 4
HELT helt bHLH transcription factor
HEXA hexosaminidase A (alpha polypeptide)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTT huntingtin
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCTD10 potassium channel tetramerization domain containing 10
LGI1 leucine-rich, glioma inactivated 1
LHX6 LIM homeobox 6
LPPR4 lipid phosphate phosphatase-related protein type 4
MBP myelin basic protein
MCOLN3 mucolipin 3
MECP2 methyl CpG binding protein 2
MSX2 msh homeobox 2
MYO5A myosin VA (heavy chain 12, myoxin)
NEU1 sialidase 1 (lysosomal sialidase)
NEUROD1 neuronal differentiation 1
NEUROD2 neuronal differentiation 2
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NPAS4 neuronal PAS domain protein 4
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRP2 neuropilin 2
OTC ornithine carbamoyltransferase
OTX1 orthodenticle homeobox 1
PAH phenylalanine hydroxylase
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLAUR plasminogen activator, urokinase receptor
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPT1 palmitoyl-protein thioesterase 1
PPT2 palmitoyl-protein thioesterase 2
PSAP prosaposin
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
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
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SGCE sarcoglycan, epsilon
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SNAP25 synaptosomal-associated protein, 25kDa
SPTBN2 spectrin, beta, non-erythrocytic 2
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
TECTA tectorin alpha
THRB thyroid hormone receptor, beta
TPP1 tripeptidyl peptidase I
UBE3A ubiquitin protein ligase E3A
USP18 ubiquitin specific peptidase 18
VCP valosin containing protein
ZNF24 zinc finger protein 24