Evidence mapPaperPMID 42559536Full record

ArticlePain reports2026

Gene variants associated with pediatric-onset erythromelalgia: Mendelian and rare-variant association analyses.

Matthew C Yonas, Don Daniel Ocay, Casie A Genetti, Kimberly Lobo, Melissa Fernandes, Nicole Groussis, Meghan Halpin, Robert T Wilder, Timothy W Yu, Charles B Berde and 1 more

Abstract read
In one paragraph

Article in Pain reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Matthew C YonasMD Program, Harvard Medical School, Boston, MA, USA.
Don Daniel OcayDepartment of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.ORCID https://orcid.org/0000-0003-4265-8647
Casie A GenettiManton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Kimberly LoboDepartment of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.
Melissa FernandesManton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Nicole GroussisManton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Meghan HalpinDepartment of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.
Robert T WilderDepartment of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN, USA.
Timothy W YuManton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Charles B BerdeDepartment of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.
Catherine A BrownsteinManton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Erythromelalgia is a descriptive term for burning pain and erythema in distal extremities, often worsened by heat and improved by cold. Inherited erythromelalgia has been primarily linked to gain-of-function variants in Objectives: The objective of this study was to uncover and assess gene variants potentially associated with pediatric-onset erythromelalgia. Methods: With IRB approval and informed consent, probands and families with erythromelalgia underwent next-generation sequencing. A list of genes of interest was produced based on Mendelian inheritance models. Selected gene candidates were assessed using the Sequence Kernel Association Test-Optimal (SKAT-O). Results: Sixty-two probands with erythromelalgia and their relatives were included in Mendelian analysis, which identified variants in PR domain zinc finger protein 12 ( Conclusion: Genes associated with both increased and decreased pain sensitivity are of considerable interest for elucidating pain mechanisms and analgesic development. As rare variants in

Indexed as

ErythromelalgiaGeneMendelian analysisOptimalPediatricSequence kernel association testVariant

Identifiers

PMID42559536
PMCPMC13441107

What Socratic holds

Textmetadata
LicenceCC BY
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.