Evidence map›Paper›PMID 40832147›Full record

ArticleAnnals of the Child Neurology Society2023

Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.

Curtis R Coughlin, Sidney M Gospe

Abstract read
In one paragraph

Article in Annals of the Child Neurology Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

  1. Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
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  15. Developmental milestones as ACNS turns one year old.Annals of the Child Neurology Society · 2023
    Article
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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

2 authors.

Curtis R CoughlinSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID 0000-0002-3545-7903
Sidney M GospeDepartments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.ORCID 0000-0002-0099-109X

Funding

Newborn screening and treatment monitoring for patients with pyridoxine-dependent epilepsyR21HD104952 · NICHD · UNIVERSITY OF COLORADO DENVER · PI COUGHLIN, CURTIS R · 2022 to 2023
$428k
NICHD NIH HHS R21 HD104952
6 · The paper itself

Abstract

Pyridoxine-dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re-emergence of seizures after withdrawal of pyridoxine. Research conducted over the last seven decades has revealed that the phenotype of PDE results from multiple genetic disorders, and the most common disorder, PDE-

Indexed as

ALDH7A1antiquitinlysine-restrictionneonatal seizuresnewborn screeningPLPBPPNPOvitamin B6

Identifiers

PMID40832147
PMCPMC12360241

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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 Socratic graph.