Evidence map›Paper›PMID 39944415›Full record

ReviewNeurology. Genetics2025

Women With Genetic Epilepsies.

Paula T Marques, Nagham Kaka, Quratulain Zulfiqar Ali, Marlene Rong, Esther Bui, Danielle M Andrade

Abstract readReview
In one paragraph

Review in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. CRISPR-edited iPSCs reveal BSN gene mutations induce neuronal hyperexcitability via astrocyte lipid accumulation.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025
    Article
  4. Ten Years ofNeurology. Genetics · 2025
    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

6 authors.

Paula T MarquesEpilepsy Program, Division of Neurology, UHN, University of Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-1303-9273
Nagham KakaDivision of Neurology, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.ORCID https://orcid.org/0000-0001-5355-7927
Quratulain Zulfiqar AliAdult Genetic Epilepsy Program, Krembil Brain Institute, UHN, University of Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-3984-5276
Marlene RongAdult Genetic Epilepsy Program, Krembil Brain Institute, UHN, University of Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-4389-4932
Esther BuiEpilepsy Program, Division of Neurology, UHN, University of Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-5785-9524
Danielle M AndradeEpilepsy Program, Division of Neurology, UHN, University of Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-0953-2698

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Some epilepsy syndromes are more common in female individuals. Often, these syndromes have an underlying genetic variant involving the X chromosome that is typically lethal in male individuals, resulting in a higher female prevalence. However, some of the idiopathic generalized epilepsies such as juvenile myoclonic epilepsy are conditions with complex inheritance, with thousands of variants in genes throughout the genome. But they can also have a predominance in female individuals. In this study, we performed a narrative review of PubMed and Scopus using the following entries: "epilepsy in women," "genetic epilepsy in female individuals," "epilepsy genetics in women," "female-specific epilepsy genetics," "epilepsy and genetic mutations in female individuals." The findings were synthesized and described according to clinical characteristics, underlying genetic mechanisms, and treatment considerations for these epilepsy syndromes manifesting largely in female individuals. The epilepsy syndromes reviewed here include Rett syndrome,

Identifiers

PMID39944415
PMCPMC11820811

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.