focal seizures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere. (Human Phenotype Ontology, HP_0007359)
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23 genes associated with the focal seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FIG4 FIG4 phosphoinositide 5-phosphatase
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
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
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
PCDH19 protocadherin 19
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PRRT2 proline-rich transmembrane protein 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SRPX2 sushi-repeat containing protein, X-linked 2
SYN1 synapsin I
SZT2 seizure threshold 2 homolog (mouse)
TBC1D24 TBC1 domain family, member 24
TSC1 tuberous sclerosis 1