Evidence map›Paper›PMID 41914769›Full record

ArticleThe Journal of physiology2026

Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans.

Pei Xin Boon, Amaia Jauregi-Miguel, S Suheda Yasarbas, Serena Pozzi, Urban Karlsson, Ammar Husami, Charmaine Ko, Amelle Shillington, Antonios Pantazis

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of physiology, 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

9 authors.

Pei Xin BoonDivision of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0009-0001-4366-4507
Amaia Jauregi-MiguelDivision of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0000-0003-0938-7734
S Suheda YasarbasDivision of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0009-0002-8528-2539
Serena PozziDivision of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0009-0009-2688-1575
Urban KarlssonDivision of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0000-0002-9228-1625
Ammar HusamiDepartment of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID 0000-0002-4287-2857
Charmaine KoDivision of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0009-0003-1026-8836
Amelle ShillingtonDepartment of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID 0000-0002-7447-8117
Antonios PantazisDivision of Cell and Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID 0000-0002-6467-1327

Funding

Hjärnfonden FO2024-0299Region Östergötland RÖ-1001370Vetenskapsrådet 2022-00574
6 · The paper itself

Abstract

KCNA2 encodes the pore-forming subunits of the voltage-gated, potassium-selective channel K

Indexed as

Developmental DisabilitiesHaploinsufficiencyKv1.2 Potassium ChannelAnimalsFemaleHEK293 CellsHumansMaleKCNA2 protein, humanKv1.2 Potassium ChannelchannelopathyCMT1Adee32epilepsyhaploinsufficiencyion channelskv1.2trafficking

Identifiers

PMID41914769
PMCPMC13082188

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.