Evidence map›Paper›PMID 34305802›Full record

ArticleFrontiers in neurology2021

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of

Josua Kegele, Johanna Krüger, Mahmoud Koko, Lara Lange, Ana Victoria Marco Hernandez, Francisco Martinez, Alexander Münchau, Holger Lerche, Stephan Lauxmann

Open access · goldAbstract read
In one paragraph

Article in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 34% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023
    Review
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 at 4 institutions in 2 countries.

Josua KegeleDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Johanna KrügerDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Mahmoud KokoDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Lara LangeInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Ana Victoria Marco HernandezNeuropediatrics Section, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Francisco MartinezNeuropediatrics Section, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Alexander MünchauInstitute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
Holger LercheDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Stephan LauxmannDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Hertie Institute for Clinical Brain Research · DEHospital Universitari i Politècnic La Fe · ESUniversity of Lübeck · DEUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary mixed hyperkinetic movements. Scientific efforts and technical advances in molecular genetics have led to the discovery of a variety of genes associated with PxD; however, clinical and genetic information of rarely affected genes or infrequent variants is often limited. In our case series, we present two individuals with PxD including one with classical paroxysmal kinesigenic dyskinesia, who carry new likely pathogenic

Indexed as

KCNA1paroxysmal dyskinesiaparoxysmal exercise induced dyskinesiaparoxysmal kinesiogenic dyskinesiaSLC2A1

Identifiers

PMID34305802
PMCPMC8297685
OpenAlexW3179834708

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.