Evidence map›Paper›PMID 41221123›Full record

ArticleBrain communications2025

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.

Clara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, Claudia Seisenberger, Susan Marschall, Nathalia R V Dragano, Patricia da Silva-Buttkus, Stefanie Leuchtenberger, Helmut Fuchs, Martin Hrabě de Angelis and 3 more

Abstract read
In one paragraph

Article in Brain communications, 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. Review
  4. 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

13 authors.

Clara D M van KarnebeekEmma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, 1105 AZ Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0002-2648-8337
Valérie Gailus-DurnerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Udo F EngelkeTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, 6681 EA Nijmegen, The Netherlands.
Claudia SeisenbergerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Susan MarschallInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Nathalia R V DraganoInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Patricia da Silva-ButtkusInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Stefanie LeuchtenbergerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Helmut FuchsInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Martin Hrabě de AngelisInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany.
Ron A WeversTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, 6681 EA Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0003-2278-9746
Curtis R CoughlinDepartment of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Dirk J LefeberTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, 6681 EA Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0001-7770-8398

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pyridoxine-dependent epilepsy (PDE) due to recessive

Indexed as

2-aminoadipic semialdehyde synthase inhibitionlysine biochemistrymetabolic epilepsymouse modeltherapy

Identifiers

PMID41221123
PMCPMC12598649

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.