Pathogenic Variants in

Kathleen J Sweadner, Elena Arystarkhova, Ihtsham U Haq, Allison Brashear, Laurie J Ozelius

Abstract read

In one paragraph

Article in Neurology. Genetics, 2025. 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

5 authors.

Kathleen J SweadnerDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston.ORCID https://orcid.org/0000-0002-2817-5262

Elena ArystarkhovaDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston.ORCID https://orcid.org/0009-0000-5334-6038

Ihtsham U HaqDepartment of Neurology, University of Miami, FL.ORCID https://orcid.org/0000-0002-8001-8440

Allison BrashearJacobs School of Medicine and Biomedical Sciences, University at Buffalo, NY; and.ORCID https://orcid.org/0000-0002-8812-7545

Laurie J OzeliusDeptartment of Neurology, Massachusetts General Hospital, Boston.ORCID https://orcid.org/0000-0002-7820-1684

Funding

Supplement to Clinical, Genetic, and Cellular Consequences of Mutations in Na,K-ATPase ATP1A3R01NS058949 · NINDS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI BRASHEAR, ALLISON · 2008 to 2025

$8.9M

NINDS NIH HHS R01 NS058949

6 · The paper itself

Abstract

Dominant pathogenic variants in ATP1A3 can occur anywhere in the coding sequence and can cause a wide range of clinical presentations. A practical problem is that sequencing services use one of 3 different mRNA transcripts with different lengths to number the candidate variants. Genetic reports often identify an ATP1A3 variant as a VUS when it is actually well validated. Only 1 transcript, the MANE Select transcript that encodes a protein of 1,013 amino acids, is well supported by evidence. Misidentification of variants in ATP1A3 is disadvantageous when it prevents a confident diagnosis. We illustrate the differences among the 3 transcripts and their merits. Sequencing services should use the MANE Select transcript.

Identifiers

PMID41235133

DOI10.1212/NXG.0000000000200320

PMCPMC12608048

What OpenQuestion 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 OpenQuestion graph.