focal motor seizures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Focal seizures involving musculature in any form. (Human Phenotype Ontology, HP_0011153)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011153
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Genes

8 genes associated with the focal motor seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LGI1 leucine-rich, glioma inactivated 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit