Trait: epilepsy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000474
Description A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 49 synonyms
  • EF - Epileptic fit
  • EP - Epilepsy
  • EPILEP NEC W/O INTR EPIL
  • EPILEP NOS W/O INTR EPIL
  • EPILEPSY NEC W INTR EPIL
  • EPILEPSY NOS W INTR EPIL
  • Epilectic attack, NOS
  • Epilepsy (disorder)
  • Epilepsy NOS
  • Epilepsy NOS (disorder)
  • Epilepsy and recurrent seizures
  • Epilepsy, NOS
  • Epilepsy, unspecified
  • Epilepsy, unspecified, with intractable epilepsy
  • Epilepsy, unspecified, without mention of intractable epilepsy
  • Epileptic
  • Epileptic Seizure
  • Epileptic attack
  • Epileptic attack, NOS
  • Epileptic convulsions
  • Epileptic convulsions, NOS
  • Epileptic disorder
  • Epileptic disorder, NOS
  • Epileptic fit
  • Epileptic fits
  • Epileptic fits, NOS
  • Epileptic seizure (finding)
  • Epileptic seizures
  • Epileptic seizures, NOS
  • Generalised convulsion
  • Generalised fit
  • Generalised seizure
  • Generalized convulsion
  • Generalized fit
  • Generalized seizure
  • Generalized seizure (finding)
  • Other forms of epilepsy
  • Other forms of epilepsy (disorder)
  • Other forms of epilepsy NOS
  • Other forms of epilepsy NOS (disorder)
  • Other forms of epilepsy and recurrent seizures
  • Other forms of epilepsy, with intractable epilepsy
  • Other forms of epilepsy, without mention of intractable epilepsy
  • Seizure disorder
  • Seizure disorder (disorder)
  • [X]Other epilepsy
  • [X]Other epilepsy (disorder)
  • epilepsy
  • seizure disorder
Mapped terms 25 mapped terms
  • DOID:1826
  • ICD10:G40
  • ICD10CM:G40
  • ICD10WHO:G40
  • ICD9:345
  • ICD9:345.8
  • ICD9:345.80
  • ICD9:345.9
  • ICD9:345.90
  • ICD9:345.91
  • MEDGEN:4506
  • MESH:D004827
  • MONDO:0005027
  • MeSH:D004827
  • MedDRA:10015037
  • MedDRA:10015046
  • MedDRA:10015047
  • MedDRA:10015048
  • MedDRA:10015052
  • NCIT:C3020
  • NCIt:C3020
  • NIFSTD:birnlex_12718
  • SCTID:84757009
  • SNOMEDCT:84757009
  • UMLS:C0014544

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS002760
(Generalised_epilepsy_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Epilepsy epilepsy 835,537
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002760/ScoringFiles/PGS002760.txt.gz
PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Epilepsy epilepsy 605,432
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004881/ScoringFiles/PGS004881.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM014960 PGS002760
(Generalised_epilepsy_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Epilepsy OR: 1.12 [1.05, 1.2] — — age, sex, 10 PCs, technical covariates —
PPM021223 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011665|
European Ancestry|
447,332 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 1.12 [1.09, 1.14] — — PCs 1-10 —
PPM021224 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011580|
European Ancestry|
20,188 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 1.07 [1.02, 1.11] C-index: 0.54 [0.53, 0.55] — PCs 1-10 —
PPM021225 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011579|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 1.1 [1.05, 1.16] C-index: 0.55 [0.54, 0.57] — PCs 1-10 —
PPM021226 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011578|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 1.1 [1.02, 1.19] C-index: 0.54 [0.52, 0.56] — PCs 1-10 —
PPM021227 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011576|
European Ancestry|
44,188 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 1.17 [1.04, 1.32] — — PCs 1-10 —
PPM021228 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011577|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 0.98 [0.86, 1.13] C-index: 0.59 [0.55, 0.63] — PCs 1-10 —
PPM021230 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011574|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 1.11 [1.08, 1.14] C-index: 0.55 [0.54, 0.56] — PCs 1-10 —
PPM021229 PGS004881
(INTERVENE_MegaPRS_Epilepsy)
 PSS011575|
European Ancestry|
412,090 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Epilepsy HR: 1.11 [1.09, 1.13] C-index: 0.55 [0.55, 0.56] — PCs 1-10 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —
PSS011665 — —
[
  • 5,886 cases
  • , 441,446 controls
]
 — European — UKB —
PSS011574 — —
[
  • 4,887 cases
  • , 194,981 controls
]
 — European — EB —
PSS011575 — —
[
  • 12,248 cases
  • , 399,842 controls
]
 — European — FinnGen —
PSS011576 — —
[
  • 297 cases
  • , 43,891 controls
]
 — European — G&H —
PSS011577 — —
[
  • 200 cases
  • , 6,818 controls
]
 — European — GS:SFHS —
PSS011578 — —
[
  • 750 cases
  • , 28,677 controls
]
 — European — GEL —
PSS011579 — —
[
  • 1,523 cases
  • , 68,192 controls
]
 — European — HUNT —
PSS011580 — —
[
  • 2,388 cases
  • , 17,800 controls
]
 — European — MGBB —