tonic-clonic seizures Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003997
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Genes

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

Symbol Name
ACP2 acid phosphatase 2, lysosomal
AKT3 v-akt murine thymoma viral oncogene homolog 3
AP3B2 adaptor-related protein complex 3, beta 2 subunit
ARX aristaless related homeobox
BCKDK branched chain ketoacid dehydrogenase kinase
CELF4 CUGBP, Elav-like family member 4
CLCN3 chloride channel, voltage-sensitive 3
DNM1 dynamin 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FMR1 fragile X mental retardation 1
FOSB FBJ murine osteosarcoma viral oncogene homolog B
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)
GRIA2 glutamate receptor, ionotropic, AMPA 2
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HELT helt bHLH transcription factor
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
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
LGI1 leucine-rich, glioma inactivated 1
LHX6 LIM homeobox 6
LPPR4 lipid phosphate phosphatase-related protein type 4
MECP2 methyl CpG binding protein 2
NEUROD1 neuronal differentiation 1
NEUROD2 neuronal differentiation 2
NR4A3 nuclear receptor subfamily 4, group A, member 3
OTC ornithine carbamoyltransferase
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLP1 proteolipid protein 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAI1 retinoic acid induced 1
RYR2 ryanodine receptor 2 (cardiac)
S1PR2 sphingosine-1-phosphate receptor 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
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
SZT2 seizure threshold 2 homolog (mouse)
UBE3A ubiquitin protein ligase E3A
VCP valosin containing protein