epileptic spasms Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. (Human Phenotype Ontology, HP_0011097)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011097
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Genes

6 genes associated with the epileptic spasms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CDKL5 cyclin-dependent kinase-like 5
SCN8A sodium channel, voltage gated, type VIII alpha subunit
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STXBP1 syntaxin binding protein 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2