Human Gene Set: HP_EPILEPTIC_SPASM


Standard name HP_EPILEPTIC_SPASM
Systematic name M37766
Brief description Epileptic spasm
Full description or abstract A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages [HPO_CONTRIBUTOR:jalbers, PMID:28276060]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011097
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011097
Filtered by similarity ?
Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 199 genes
Gene families ? Categorize these 199 genes by gene family
Show members (show 199 source identifiers mapped to 199 genes)
Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

See MSigDB license terms here. Please note that certain gene sets have special access terms.