Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP)
Introduction
Little is known about the distribution of epilepsy susceptibility genes and epilepsy syndromes among racial and ethnic groups. The photo-paroxysmal response (PPR), an electroencephalographic finding associated with idiopathic generalized epilepsy (GE), is more common among people of European ancestry than among those of African ancestry (Adamolekun et al., 1998, de Graaf et al., 1995) suggesting there may be variability in the prevalence of epilepsy syndromes among people of different ancestries. We examined the relationship between self-reported race and ethnicity and epilepsy type in a large cohort of individuals with epilepsy of unknown cause. Based on the distribution of the PPR, we hypothesized that GEs would be less common in subjects of African ancestry than Caucasians/whites.
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Subjects
We examined epilepsy classification and race/ethnicity in 813 probands from sibling or parent–child pairs with epilepsy enrolled in the Epilepsy Phenome/Genome Project (EPGP), a multi-center, collaborative effort to collect detailed phenotypic and genetic data on a 3750 patients with epilepsy (Nesbitt et al., 2013, The EPGP Collaborative, 2013). Subjects were enrolled at 27 sites, all but four (Argentina, Australia, Canada and New Zealand) of which were in the United States. Subjects were
Results
The distribution of ILAE epilepsy syndromes among the 813 probands is shown in Table 1. Because the low frequency of many specific syndromes among the probands precluded analysis of racial and ethnic differences within them, further analysis was restricted to the broad classification categories of GE, NAFE, mixed syndrome and unknown. The racial and ethnic categories of the subjects along with their epilepsy syndrome classification are shown in Table 2. Of the 813 probands, 628 (77.2%)
Discussion
In this cohort of patients, enriched for genetic contributions to their epilepsy by virtue of having a family history of first-degree relatives with non-acquired epilepsy, GE was more common in whites than in those with self-reported African ancestry, suggesting there may be racial differences in the prevalence of epilepsy syndromes. These results should be interpreted with caution due to the low number of subjects with African ancestry in this cohort and the higher proportion of unclassified
Disclosures
Dr. Friedman receives salary support from The Epilepsy Study Consortium, a non-profit organization dedicated to improving the lives of epilepsy patients, and devotes 15% of his time to work done for the Consortium. The Consortium receives payments from a large number of pharmaceutical companies for consulting activities. All payments are made to The Consortium and not to Dr. Friedman directly. Several companies also support the Consortium's biennial Antiepileptic Drug Trials Symposium. Since
Acknowledgments
Supported by NINDS U01 NS 053998. We would like to acknowledge the recruitment contributions of the EPGP Community Referral Network (CRN). The CRN consists of healthcare professionals not paid by the EPGP grant who refer eligible families to EPGP. A list of individual contributors can be found at www.epgp.org. In addition, we would like to acknowledge the efforts of the clinical coordinators, the site principal investigators, neurologists, and support staff at our EPGP clinical centers who have
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For a complete list of investigators and contributors, please see the appendix.