epilepsy; Gene Set

Dataset GAD Gene-Disease Associations
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

9 genes associated with the disease epilepsy; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
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