ArticleNeurology2017
Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.
Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- [A multicentre epilepsy registry in Mexico].Revista de neurologia · 2024Observational
- Subjective distinguishability of seizure and non-seizure Déjà Vu: A case report, brief literature review, and research prospects.Epilepsy & behavior : E&B · 2021Review
- Article
- Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.Epilepsia · 2019Article
- Epilepsy in families: Age at onset is a familial trait, independent of syndrome.Annals of neurology · 2019Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo improve phenotype definition in genetic studies of epilepsy, we assessed the familial aggregation of focal seizure types and of specific seizure symptoms within the focal epilepsies in families from the Epilepsy Phenome/Genome Project.
methodsWe studied 302 individuals with nonacquired focal epilepsy from 149 families. Familial aggregation was assessed by logistic regression analysis of relatives' traits (dependent variable) by probands' traits (independent variable), estimating the odds ratio for each symptom in a relative given presence vs absence of the symptom in the proband.
resultsIn families containing multiple individuals with nonacquired focal epilepsy, we found significant evidence for familial aggregation of ictal motor, autonomic, psychic, and aphasic symptoms. Within these categories, ictal whole body posturing, diaphoresis, dyspnea, fear/anxiety, and déjà vu/jamais vu showed significant familial aggregation. Focal seizure type aggregated as well, including complex partial, simple partial, and secondarily generalized tonic-clonic seizures.
conclusionOur results provide insight into genotype-phenotype correlation in the nonacquired focal epilepsies and a framework for identifying subgroups of patients likely to share susceptibility genes.
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