1. Familial aggregation of status epilepticus in generalized and focal epilepsies.
- Author
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Weisenberg, Judith LZ, Fitzgerald, Robert T, Constantino, John N, Winawer, Melodie R, and Thio, Liu Lin
- Subjects
Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Genetics ,Neurodegenerative ,Epilepsy ,Brain Disorders ,Neurological ,Adolescent ,Adult ,Child ,Databases ,Genetic ,Epilepsies ,Partial ,Epilepsy ,Generalized ,Family Health ,Female ,Humans ,Male ,Status Epilepticus ,Time Factors ,Young Adult ,EPGP Investigators ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveTo determine whether familial aggregation of status epilepticus (SE) occurs in a large cohort of familial common epilepsies.MethodsWe used the Epilepsy Phenome/Genome Project dataset, which consisted of 2,197 participants in 1,043 family units with ≥2 members having a common generalized or nonacquired focal epilepsy (NAFE). We identified participants with a history of traditionally defined SE (TSE) (seizures ≥30 minutes) and operationally defined SE (OSE) (seizures ≥10 minutes) by chart review. We assessed familial aggregation of TSE and OSE using χ2 analysis and generalized estimating equations (GEE).ResultsOne hundred fifty-five (7%) participants in 1,043 families had ≥1 episodes of TSE. Two hundred fifty (11%) had ≥1 episodes of OSE. In a χ2 analysis, the number of family units with ≥2 members having TSE (odds ratio [OR] 4.79, 95% confidence interval [CI] 2.56-8.97) or OSE (OR 4.23, 95% CI 2.67-6.70) was greater than expected by chance. In GEE models adjusted for sex, broad epilepsy class (GE or NAFE), age at onset, and duration of epilepsy, TSE in a proband predicted TSE in a first-degree relative (OR 2.79, 95% CI 1.24-6.22), and OSE in a proband predicted OSE in a first-degree relative (OR 2.91, 95% CI 1.65-5.15). The results remained significant in models addressing epilepsy severity by incorporating the number of antiseizure medications used or epilepsy surgery.ConclusionsTSE and OSE showed robust familial aggregation in a cohort of familial epilepsy independently of epilepsy severity or class, suggesting that genetic factors contribute to SE independently of the genetic cause of these epilepsies.Clinicaltrialsgov identifierNCT00552045.
- Published
- 2020