Evidence map›Paper›PMID 37580162›Full record

ArticleNeurology2023

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy.

Olivier Fortin, Kelsey Christoffel, Youssef Kousa, Ilana Miller, Eyby Leon, Kelsey Donoho, Sarah B Mulkey, Tayyba Anwar

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.5field-weighted citation impact, top 18% 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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

8 authors at 3 institutions in 3 countries.

Olivier FortinFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC. ofortin@childrensnational.org.ORCID 0000-0002-9349-0592
Kelsey ChristoffelFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC.ORCID 0000-0001-6719-4135
Youssef KousaFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC.ORCID 0000-0001-6049-8144
Ilana MillerFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC.ORCID 0000-0002-0109-2870
Eyby LeonFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC.
Kelsey DonohoFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC.ORCID 0000-0001-8909-7299
Sarah B MulkeyFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC.ORCID 0000-0002-8084-526X
Tayyba AnwarFrom the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC.
George Washington University · USNational Hospital · INNorwegian Womens Public Health Association · NO

Funding

Diversity Supplement: Clinical Pediatric Research Training for the Fetal-Neonatal BrainT32HD098066 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI DU PLESSIS, ADRE JACQUES, LIMPEROPOULOS, CATHERINE · 2020 to 2024
$1.7M
Viral Neurobiology in the Prenatal BrainK08NS119882 · NINDS · CHILDREN'S RESEARCH INSTITUTE · PI Youssef A Kousa · 2022 to 2026
$1.1M
NICHD NIH HHS L40 HD102847NICHD NIH HHS T32 HD098066NINDS NIH HHS K08 NS119882
6 · The paper itself

Abstract

Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE). PDE occurs secondary to biallelic pathogenic variants in

Indexed as

EpilepsyPyridoxineAldehyde DehydrogenaseHumansInfant, NewbornSeizuresVitamin B 6Aldehyde DehydrogenasePyridoxineVitamin B 6

Identifiers

PMID37580162
PMCPMC10634650
OpenAlexW4385803407

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.