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Title: The "maternal effect" on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence.
Austin Authors: Ellis, Colin A;Berkovic, Samuel F ;Epstein, Michael P;Ottman, Ruth
Affiliation: Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Department of Human Genetics, Emory University, Atlanta, GA, USA
Departments of Epidemiology and Neurology, and the G. H. Sergievsky Center, Columbia University; and Division of Translational Epidemiology, New York State Psychiatric Institute, New York, NY, USA
Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Issue Date: 2020 2019-10-21
Publication information: Annals of neurology 2020; 87(1): 132-138
Abstract: Previous studies have observed that epilepsy risk is higher among offspring of affected women than offspring of affected men. We tested whether this "maternal effect" was present in familial epilepsies, which are enriched for genetic factors that contribute to epilepsy risk. We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsy using three methods: (1) "downward-looking" analysis, comparing the rate of epilepsy in offspring of affected women versus men; (2) "upward-looking" analysis, comparing the rate of the epilepsy among mothers versus fathers of affected individuals; (3) lineage analysis, comparing the the proportion of affected individuals with family history of epilepsy on the maternal versus paternal side. Downward-looking analysis revealed no difference in epilepsy rates among offspring of affected mothers versus fathers (prevalence ratio 1.0, 95% CI 0.8, 1.2). Upward-looking analysis revealed more affected mothers than affected fathers; this effect was similar for affected and unaffected sibships (odds ratio 0.8, 95% CI 0.5, 1.2) and was explained by a combination of differential fertility and participation rates. Lineage analysis revealed no significant difference in the likelihood of maternal versus paternal family history of epilepsy. We found no evidence of a maternal effect on epilepsy risk in this familial epilepsy cohort. Confounding sex imbalances can create the appearance of a maternal effect in upward-looking analyses and may have impacted prior studies. We discuss possible explanations for the lack of evidence, in familial epilepsies, of the maternal effect observed in population-based studies. This article is protected by copyright. All rights reserved.
DOI: 10.1002/ana.25625
ORCID: 0000-0003-2152-8106
PubMed URL: 31637767
Type: Journal Article
Subjects: Epilepsy
Appears in Collections:Journal articles

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