Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Genetic presumed genetic epilepsy etiology type NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
NIH CDEs
  • NINDS
    • Disease
      • Epilepsy
        • Classification
          • Supplemental-Highly Recommended
        • Domain
          • Disease/Injury Related Events
            • Classification
    • Domain
      • Disease/Injury Related Events
        • Classification
    • Population
      • Adult
      • Pediatric

# Datatype
Value List

# Permissible value Value meaning name Value meaning definition
Focal epilepsy with or without a known proven mutation Focal epilepsy with or without a known proven mutation Focal epilepsy with or without a known proven mutation (e.g., LGI1, ADNFL)
Genetic epilepsies not otherwise specified Genetic epilepsies not otherwise specified Genetic epilepsies not otherwise specified
Idiopathic generalized with known syndrome Idiopathic generalized with known syndrome Idiopathic generalized with known syndrome (childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, generalized GTCS alone)
Known genetic mutation with or without developmental /epileptic encephalopathy or known disease/syndrome linked to genetic mutation Known genetic mutation with or without developmental /epileptic encephalopathy or known disease/syndrome linked to genetic mutation Known genetic mutation with or without developmental /epileptic encephalopathy (e.g., CDKL5) or known disease/syndrome linked to genetic mutation (e.g., Dravet syndrome)
Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome (e.g., Doose Syndrome)

# Definition
The categorization for genetic or presumed genetic etiology of epilepsy

# Designation
Genetic presumed genetic epilepsy etiology type

# Identifier Origin Version
GeneticPresumeGenEpilEtioTyp BRICS Variable Name N/A
C58582 NINDS 1
QyW4tj_T6U NLM CDEs 12-02-2025-download