Journal article

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

Annals of Neurology | WILEY | Published : 2019

Abstract

OBJECTIVE: 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. METHODS: We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsy using 3 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 epilepsy among mothers versus fathers of affected individuals; and (3) lineage analysis, comparing the proportion of affected..

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University of Melbourne Researchers

Grants

Awarded by NIH National Institute of Neurological Disorders and Stroke grant


Awarded by National Health and Medical Research Council


Awarded by NIH


Awarded by Ruth L. Kirschstein National Research Service Award institutional research training grant


Funding Acknowledgements

The Epi4K family study was supported by an NIH National Institute of Neurological Disorders and Stroke grant (U01NS077367). S.F.B. was supported by a National Health and Medical Research Council program grant (628952). R.O. was supported by NIH grants R01 NS078419 and P50 HG007257. M.P.E. was supported by NIH grant R01 GM117946. C.A.E. was supported by a Ruth L. Kirschstein National Research Service Award institutional research training grant (T32 NS091008). We thank all individuals, including patients and their families, who participated in the study, as well as the clinicians and research staff at many institutions who contributed to the study.