Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.
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ABSTRACT: Objective
To 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.Methods
We 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.Results
In 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.Conclusion
Our 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.
SUBMITTER: Tobochnik S
PROVIDER: S-EPMC5496514 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Publications
Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.
Tobochnik Steven S Fahlstrom Robyn R Shain Catherine C Winawer Melodie R MR
Neurology 20170531 1
<h4>Objective</h4>To 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.<h4>Methods</h4>We 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) ...[more]
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