Evidence map›Paper›PMID 31637767›Full record

ArticleAnnals of neurology2020

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, Epi4K Consortium

Open access · bronzeAbstract readMulticenter Study
In one paragraph

Article in Annals of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.7field-weighted citation impact, top 23% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 4 institutions in 2 countries.

Colin A EllisDepartment of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.ORCID 0000-0003-2152-8106
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, Victoria, Australia.ORCID 0000-0003-4580-841X
Michael P EpsteinDepartment of Human Genetics, Emory University, Atlanta, GA.
Ruth OttmanDepartments of Epidemiology and Neurology, and the G. H. Sergievsky Center, Columbia University, New York, NY.ORCID 0000-0001-7074-242X
Epi4K Consortium
Columbia University Irving Medical Center · USEmory University · USThe University of Melbourne · AUUniversity of Pennsylvania · US

Funding

Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral GeneticsP50HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2013 to 2017
$5.4M
Psychosocial Impact of Genetics in EpilepsyR01NS104076 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2018 to 2022
$3.2M
Remapping neurology through translation and innovationT32NS091008 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI AGUIRRE, GEOFFREY KARL, JENSEN, FRANCES E · 2015 to 2024
$3.0M
Psychosocial Impact of Genetics in EpilepsyR01NS078419 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2012 to 2015
$2.3M
Statistical Tests for Mapping Genetic Determinants of Complex TraitsR01GM117946 · NIGMS · EMORY UNIVERSITY · PI EPSTEIN, MICHAEL PHILIP, GHOSH, DEBASHIS · 2016 to 2019
$1.2M
5 of 7 Epi4K: Multiplex Families & Pairs ProjectU01NS077367 · NINDS · UNIVERSITY OF MELBOURNE · PI BERKOVIC, SAMUEL FRANK, COSSETTE, PATRICK · 2011 to 2013
$1.0M
NHGRI NIH HHS P50 HG007257NIGMS NIH HHS R01 GM117946NINDS NIH HHS R01 NS078419NINDS NIH HHS R01 NS104076NINDS NIH HHS T32 NS091008NINDS NIH HHS U01 NS077367
6 · The paper itself

Abstract

objectivePrevious 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.

methodsWe 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 individuals with family history of epilepsy on the maternal versus paternal side.

resultsDownward-looking analysis revealed no difference in epilepsy rates among offspring of affected mothers versus fathers (prevalence ratio = 1.0, 95% confidence interval [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.

interpretationWe 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. ANN NEUROL 2020;87:132-138.

Indexed as

Maternal InheritancePaternal InheritanceEpileptic SyndromesFamily HealthFemaleHumansMalePrevalenceSex FactorsUnited States

Identifiers

PMID31637767
PMCPMC7147955
OpenAlexW2981370773

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.