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Neurology. 2017 Jul 4;89(1):22-28. doi: 10.1212/WNL.0000000000004052. Epub 2017 May 31.

Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.

Author information

1
From the Department of Neurology and G.H. Sergievsky Center (S.T., M.R.W.), Columbia University, New York, NY; Department of Neurology (R.F.), University of California, San Francisco; and Department of Neurology (C.S.), Boston Children's Hospital, MA.
2
From the Department of Neurology and G.H. Sergievsky Center (S.T., M.R.W.), Columbia University, New York, NY; Department of Neurology (R.F.), University of California, San Francisco; and Department of Neurology (C.S.), Boston Children's Hospital, MA. mw211@columbia.edu.

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.

PMID:
28566546
PMCID:
PMC5496514
DOI:
10.1212/WNL.0000000000004052
[Indexed for MEDLINE]
Free PMC Article

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