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Epilepsy

DOID EFO Endpoint Browser PheWeb

G6_EPLEPSY

epilepsy: 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.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — G40
  • Hospital discharge: ICD-9 — 345
  • Hospital discharge: ICD-8 — 345
  • Hospital discharge: excluded ICD-9 — 3452|3453
  • Hospital discharge: excluded ICD-8 — 34520
  • Cause of death: ICD-10 — G40
  • Cause of death: ICD-9 — 345
  • Cause of death: ICD-8 — 345
  • Cause of death: excluded ICD-9 — 3452|3453
  • Cause of death: excluded ICD-8 — 34520
  • KELA reimbursements: KELA codes — 111

3 out of 7 registries used, show all original rules.

14616

4. Check minimum number of events

None

14616

5. Include endpoints

None

14616

6. Filter based on genotype QC (FinnGen only)

14089

Control definitions (FinnGen only)

Control exclude G6_EPIPAROX

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G40-G47

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 173450 79330 92295
Only index persons 134709 64649 70060
Unadjusted period prevalence (%)
Whole population 2.43 2.27 2.58
Only index persons 2.53 2.38 2.67
Median age at first event (years)
Whole population 44.96 44.17 45.37
Only index persons 40.83 40.14 41.46

-FinnGen-

Key figures

All Female Male
Number of individuals 14089 6998 7091
Unadjusted period prevalence (%) 3.16 2.75 3.56
Median age at first event (years) 43.36 36.28 50.34

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Association

Association between endpoint G6_EPLEPSY and mortality.

Females

Parameter HR [95% CI] p-value
G6_EPLEPSY 3.781 [3.4, 4.21] < 0.001
Birth year 0.987 [0.98, 1.0] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 15378 out of 45193 females with G6_EPLEPSY died.

Males

Parameter HR [95% CI] p-value
G6_EPLEPSY 3.845 [3.45, 4.29] < 0.001
Birth year 0.98 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 19799 out of 52307 males with G6_EPLEPSY died.

Mortality risk

Mortality risk for people of age

years, who have G6_EPLEPSY.

N-year risk Females Males
1 0.378% 0.557%
5 1.931% 3.366%
10 4.163% 8.308%
15 7.711% 15.149%
20 13.261% 23.722%

Relationships between endpoints

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Index endpoint: G6_EPLEPSY – Epilepsy

GWS hits: 2

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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