ArticleEpilepsia2003
Evidence for distinct genetic influences on generalized and localization-related epilepsy.
Article in Epilepsia, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies.Epilepsia · 2025Article
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- Family Ties: Reproductive Decision Making Among Members of Multiplex Epilepsy Families.Epilepsy currents · 2021Article
- Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors.Epilepsia · 2020Article
- Mood disorders in familial epilepsy: A test of shared etiology.Epilepsia · 2018Article
- Phenotypic analysis of 303 multiplex families with common epilepsies.Brain : a journal of neurology · 2017Article
- Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.Neurology · 2017Article
- Familial risk of epilepsy: a population-based study.Brain : a journal of neurology · 2014Article
- Recruitment for genetic studies of epilepsy.Epilepsy research · 2012Article
- Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study.Epilepsy research · 2011Article
- Evaluation of depression risk in LGI1 mutation carriers.Epilepsia · 2010Article
- Article
- Article
- Analysis of genetically complex epilepsies.Epilepsia · 2005Review
- Article
- Genetic influences on myoclonic and absence seizures.Neurology · 2003Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
purposeDetermining the existence of syndrome-specific genetic factors in epilepsy is essential for phenotype definition in genetic linkage studies, and informs research on basic mechanisms. Analysis of concordance of epilepsy syndromes in families has been used to assess shared versus distinct genetic influences on generalized epilepsy (GE) and localization-related epilepsy (LRE). However, it is unclear how the results should be interpreted in relation to specific genetic hypotheses.
methodsTo assess evidence for distinct genetic influences on GE and LRE, we examined concordance of GE and LRE in 63 families containing multiple individuals with idiopathic or cryptogenic epilepsy, drawn from the Epilepsy Family Study of Columbia University. To control for the number of concordant families expected by chance, we used a permutation test to compare the observed number with the number expected from the distribution of individuals with GE and LRE in the study families.
resultsOf the families, 62% were concordant for epilepsy type, and 38% were discordant. In all analyses, the proportion of concordant families was significantly greater than expected.
conclusionsThis suggests that some genetic influences predispose specifically to either GE or LRE. Because of the ascertainment bias resulting from the selection of families containing multiple individuals with epilepsy, we could not test whether there are also shared genetic influences on these two epilepsy subtypes. Population-based studies will be needed to explore these results further.
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