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
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External links https://hpo.jax.org/app/browse/term/HP:0011097
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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