Evidence map›Paper›PMID 40381892›Full record

ArticleNeurobiology of disease2025

Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.

Markus Terrey, Georgii Krivoshein, Scott I Adamson, Elena Arystarkhova, Laura Anderson, John Szwec, Shelby McKee, Holly Jones, Sara Perkins, Vijay Selvam and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. bioRxiv : the preprint server for biology · 2026
    Article
  4. Review
  5. 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

21 authors.

Markus TerreyRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Georgii KrivosheinDepartment of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands; Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.
Scott I AdamsonNew York Genome Center, New York, NY, USA.
Elena ArystarkhovaDepartment of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Laura AndersonRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
John SzwecRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Shelby McKeeRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Holly JonesRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Sara PerkinsRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Vijay SelvamRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Pierre-Alexandre PiecRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Dweet ChhayaRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Ari DehnRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Aamir ZuberiTechnology Evaluation and Development, The Jackson Laboratory, Bar Harbor, ME, USA.
Stephen A MurrayRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, ME, USA; JAX Center for Precision Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.
Natalia S MorsciHope for Annabel, Washington, DC, USA.
Kathleen J SweadnerDepartment of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
David A KnowlesNew York Genome Center, New York, NY, USA; Department of Computer Science and Department of Systems Biology, Columbia, New York, NY, USA.
Else A TolnerDepartment of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands; Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.
Arn M J M van den MaagdenbergDepartment of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands; Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.
Cathleen M LutzRare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA; JAX Center for Precision Genetics, The Jackson Laboratory, Bar Harbor, ME, USA. Electronic address: Cat.Lutz@jax.org.

Funding

The Mutant Mouse Resource and Research Center at The Jackson LaboratoryU42OD010921 · OD · JACKSON LABORATORY · PI Cathleen M Lutz · 2012 to 2026
$21.4M
The Jackson Laboratory Center for Precision GeneticsU54OD030187 · OD · JACKSON LABORATORY · PI Cathleen M Lutz, Stephen A Murray · 2020 to 2026
$17.2M
NIH HHS U42 OD010921NIH HHS U54 OD030187
6 · The paper itself

Abstract

Pathogenic variants in the neuronal Na

Indexed as

HemiplegiaMutationSodium-Potassium-Exchanging ATPaseAnimalsDisease Models, AnimalFemaleMaleMiceMice, Inbred C57BLATP1A3 protein, humanAtp1a3 protein, mouseSodium-Potassium-Exchanging ATPaseAHCAnd NeuroinflammationATP1A3ATPase activityDystoniaSeizureSpreading depolarization

Identifiers

PMID40381892
PMCPMC12798733

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.