Human Gene Set: HP_EPILEPTIC_ENCEPHALOPATHY


Standard name HP_EPILEPTIC_ENCEPHALOPATHY
Systematic name M38935
Brief description Epileptic encephalopathy
Full description or abstract A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. [PMID:21590624, PMID:23213494]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0200134
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0200134
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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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