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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.
GLOSSARY
- ADEAF=
- autosomal dominant epilepsy with auditory features;
- CI=
- confidence interval;
- EPGP=
- Epilepsy Phenome/Genome Project;
- FCD=
- focal cortical dysplasia;
- FDR=
- false discovery rate;
- GE=
- generalized epilepsy;
- GEE=
- generalized estimating equation;
- IGE=
- idiopathic generalized epilepsy;
- mTLE=
- mesial temporal lobe epilepsy;
- MTS=
- mesial temporal sclerosis;
- NAFE=
- nonacquired focal epilepsy;
- OR=
- odds ratio;
- PC=
- Phenome Core;
- PI=
- principal investigator;
- SGTC=
- secondarily generalized tonic-clonic seizures;
- TLE=
- temporal lobe epilepsy
Footnotes
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Coinvestigators are listed at Neurology.org.
Supplemental data at Neurology.org
Editorial, page 14
- Received July 31, 2014.
- Accepted in final form March 10, 2017.
- © 2017 American Academy of Neurology
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