Human Gene Set: HP_MYOCLONIC_ABSENCE_SEIZURE


Standard name HP_MYOCLONIC_ABSENCE_SEIZURE
Systematic name M37784
Brief description Myoclonic absence seizure
Full description or abstract Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. [https://orcid.org/0000-0001-8486-0558, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011150
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011150
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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 2023.1.Hs: Updated to HPO Release 2023-01-27.

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