Human Gene Set: HP_GENERALIZED_MYOCLONIC_SEIZURE


Standard name HP_GENERALIZED_MYOCLONIC_SEIZURE
Systematic name M43270
Brief description Generalized myoclonic seizure
Full description or abstract A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002123
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002123
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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
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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