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The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence / Colin A. Ellis; Samuel F. Berkovic; Michael P. Epstein; Ruth Ottman; (for the Epi4K Consortium); Owen Pickrell

Annals of Neurology, Volume: 87, Issue: 1, Pages: 132 - 138

Swansea University Author: Owen, Pickrell

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DOI (Published version): 10.1002/ana.25625

Abstract

Objective: Previous studies have observed that epilepsy risk is higher among offspring of affected women thanoffspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which areenriched for genetic factors that contribute to epilepsy risk.Methods: We asse...

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Published in: Annals of Neurology
ISSN: 0364-5134 1531-8249
Published: Wiley 2020
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URI: https://cronfa.swan.ac.uk/Record/cronfa52556
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Abstract: Objective: Previous studies have observed that epilepsy risk is higher among offspring of affected women thanoffspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which areenriched for genetic factors that contribute to epilepsy risk.Methods: We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsyusing three methods: (1) “downward-looking” analysis, comparing the rate of epilepsy in offspring of affectedwomen versus men; (2) “upward-looking” analysis, comparing the rate of the epilepsy among mothers versusfathers of affected individuals; (3) lineage analysis, comparing the the proportion of affected individuals withfamily history of epilepsy on the maternal versus paternal side.Results: Downward-looking analysis revealed no difference in epilepsy rates among offspring of affectedmothers versus fathers (prevalence ratio 1.0, 95% CI 0.8, 1.2). Upward-looking analysis revealed more affectedmothers 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 analysisrevealed no significant difference in the likelihood of maternal versus paternal family history of epilepsy.Interpretation: 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 andmay have impacted prior studies. We discuss possible explanations for the lack of evidence, in familialepilepsies, of the maternal effect observed in population-based studies
College: Swansea University Medical School
Issue: 1
Start Page: 132
End Page: 138