epilepsy syndrome Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (Human Disease Ontology, DOID_1826)
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Genes

89 genes involed in the disease epilepsy syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ADSL adenylosuccinate lyase
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATN1 atrophin 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
BRAT1 BRCA1-associated ATM activator 1
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CASR calcium-sensing receptor
CDKL5 cyclin-dependent kinase-like 5
CHD2 chromodomain helicase DNA binding protein 2
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CLCN2 chloride channel, voltage-sensitive 2
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNTN2 contactin 2 (axonal)
CNTNAP2 contactin associated protein-like 2
CPA6 carboxypeptidase A6
CSTB cystatin B (stefin B)
DCX doublecortin
DEPDC5 DEP domain containing 5
DOCK7 dedicator of cytokinesis 7
EFHC1 EF-hand domain (C-terminal) containing 1
EML1 echinoderm microtubule associated protein like 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
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
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GOSR2 golgi SNAP receptor complex member 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
IER3IP1 immediate early response 3 interacting protein 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNT1 potassium channel, sodium activated subfamily T, member 1
LGI1 leucine-rich, glioma inactivated 1
MAPK10 mitogen-activated protein kinase 10
MEF2C myocyte enhancer factor 2C
NAGA N-acetylgalactosaminidase, alpha-
NECAP1 NECAP endocytosis associated 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
PCDH19 protocadherin 19
PHF6 PHD finger protein 6
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNPO pyridoxamine 5'-phosphate oxidase
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRRT2 proline-rich transmembrane protein 2
QARS glutaminyl-tRNA synthetase
ROGDI rogdi homolog (Drosophila)
SCARB2 scavenger receptor class B, member 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNIP1 Smad nuclear interacting protein 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRPX2 sushi-repeat containing protein, X-linked 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STXBP1 syntaxin binding protein 1
SYN1 synapsin I
SZT2 seizure threshold 2 homolog (mouse)
TBC1D24 TBC1 domain family, member 24
TCF4 transcription factor 4
TPP1 tripeptidyl peptidase I
TSC1 tuberous sclerosis 1
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
ZEB2 zinc finger E-box binding homeobox 2