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Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy.

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Paper

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The authors' code

R Markdown · 252 lines · 6.8 KB · no license

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Overview

Authors: Haley Morris1, Elizabeth Mathew1, Shalini Bahl2,3, Marta Villa‐Lopez1,4, Saadet Mercimek‐Andrews1,5,6,7
  1. Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada
  2. Princess Margaret Cancer Centre, Toronto, Ontario, Canada
  3. Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada
  4. Division of Neurology, Department of Medicine, University of Alberta, Edmonton, Canada
  5. Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada
  6. Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada
  7. Medical Genetics Clinic, Edmonton Zone, Alberta Health Services, Edmonton, Alberta, Canada
Institutions: University of Alberta (Canada); University of Toronto (Canada); Princess Margaret Cancer Centre (Canada); Alberta Health Services (Canada); Women and Children’s Health Research Institute (Canada); Neuroscience and Mental Health Institute (Canada)
Journal: Epilepsia open, volume 11, issue 4, pages 1184-1199
Dates: received 9 January 2026; accepted 1 April 2026; published online 1 June 2026; in print August 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1002/epi4.70269 · PMID 42220229 · PMCID PMC13394182 · OpenAlex W7163067506
Open access: gold, a free copy (OpenAlex)
Status: code verified
Categories: genetics / omics (modality), human (organism), epilepsy (population), cellular / molecular (subfield)
Methods: Statistics
Keywords: 3D protein structure prediction tool, chromosomal microarray, exome sequencing, gene of uncertain significance, monogenic genetic epilepsy, targeted next‐generation sequencing panel for epilepsy
MeSH: Epilepsy*, Adolescent, Adult, Child, Child, Preschool, Databases, Genetic, Exome Sequencing, Female, Genotype, Humans, Infant, Male, Phenotype, Young Adult (* major topic)
Topic: Genomics and Rare Diseases (Genetics, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: Alberta Medical Association
Citations: not cited yet (Europe PMC); 35 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Repository

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bahlolab/genes4epilepsy

License: none: the authors keep all their rights
State: the link answers, verified on 27 September 2026
Evidence: files inventoried
Commit: 72364d5c0ca88fe34a294d26321f80b7018fff50, 14 September 2026
Languages: JavaScript (24), R (1)
Size: 104 files, 25 scripts
Software Heritage: not archived
Found in: the text, “INTRODUCTION”
Holds: README, 1 notebook
Not found: license file, CITATION.cff, environment file, tests, continuous integration, documentation
Tools: tidyverse (1 file)
Availability: 1 check, the latest on 27 September 2026: the link answers
  • 27 September 2026: the link answers
26 files, not copied: shown from their source

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At the source: github.com/bahlolab/genes4epilepsy

Tracing map

Proposed by the machine: these links were found in the paper and verified at the source, without human review. The map will receive a Zenodo DOI once one of the paper's authors has validated it with their ORCID.

What the map holds:

  • 1 repository of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
  • 25 scripts, each with its path and the digest of its content;
  • no match between paragraphs and code yet;
  • neither the text of the paper nor the code itself.

Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.

Data

No dataset and no data link were found in the paper.

Data availability statement

The paper has a data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

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Read it in the paper: doi.org/10.1002/epi4.70269.

Versions

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Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 5 authors, 6 keywords, 14 MeSH terms, 1 funder, 34 references.

Cite

This paper

Morris, H., Mathew, E., Bahl, S., Villa‐Lopez, M., & Mercimek‐Andrews, S. (2026). Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy. Epilepsia open, 11(4), 1184-1199. https://doi.org/10.1002/epi4.70269

BibTeX

@article{morris2026real,
author = {Morris, Haley and Mathew, Elizabeth and Bahl, Shalini and Villa‐Lopez, Marta and Mercimek‐Andrews, Saadet},
title = {{Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy}},
journal = {Epilepsia open},
year = {2026},
month = jun,
volume = {11},
number = {4},
pages = {1184--1199},
publisher = {Wiley},
issn = {2470-9239},
doi = {10.1002/epi4.70269},
url = {https://doi.org/10.1002/epi4.70269},
pmid = {42220229},
pmcid = {PMC13394182}
}

RIS

TY - JOUR
AU - Morris, Haley
AU - Mathew, Elizabeth
AU - Bahl, Shalini
AU - Villa‐Lopez, Marta
AU - Mercimek‐Andrews, Saadet
TI - Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy
T2 - Epilepsia open
J2 - Epilepsia Open
PY - 2026
DA - 2026/06/01
VL - 11
IS - 4
SP - 1184
EP - 1199
SN - 2470-9239
PB - Wiley
DO - 10.1002/epi4.70269
UR - https://doi.org/10.1002/epi4.70269
LA - en
ER -

CSL-JSON

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The tracing map gets a citation of its own once an author has validated it and it has a DOI.

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