Evidence map›Paper›PMID 37446101›Full record

ArticleInternational journal of molecular sciences2023

An E280K Missense Variant in

Richard Ågren, Niels Geerdink, Han G Brunner, Martin Paucar, Erik-Jan Kamsteeg, Kristoffer Sahlholm

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 28% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

6 authors at 4 institutions in 3 countries.

Richard ÅgrenDepartment of Physiology and Pharmacology, Karolinska Institutet, 171 77 Stockholm, Sweden.
Niels GeerdinkDepartment of Pediatrics, Rijnstate Hospital, 6815 AD Arnhem, The Netherlands.
Han G BrunnerDepartment of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Martin PaucarDepartment of Neurology, Karolinska University Hospital, 141 86 Stockholm, Sweden.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud UMC, 6525 GA Nijmegen, The Netherlands.
Kristoffer SahlholmDepartment of Physiology and Pharmacology, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0001-6536-1972
Karolinska Institutet · SERadboud University Nijmegen · NLKarolinska University Hospital · SERijnstate Hospital · NL

Funding

Hjärnfonden PS2022-0040Knut and Alice Wallenberg Foundation n/aRegion Stockholm n/a
6 · The paper itself

Abstract

A five-year-old girl presented with headache attacks, clumsiness, and a history of transient gait disturbances. She and her father, mother, twin sister, and brother underwent neurological evaluation, neuroimaging, and exome sequencing covering 357 genes associated with movement disorders. Sequencing revealed the new variant

Indexed as

Cerebellar AtaxiaSpinocerebellar DegenerationsAtaxiaFemaleHumansMaleMutationMutation, MissenseShal Potassium ChannelsKCND3 protein, humanShal Potassium Channelselectrophysiologyepisodic ataxiamild developmental delayrare variantsspinocerebellar ataxia type 19/22voltage-gated potassium channel D3voltage sensor

Identifiers

PMID37446101
PMCPMC10341420
OpenAlexW4382751620

What OpenQuestion 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 OpenQuestion graph.