Evidence map›Paper›PMID 33833732›Full record

ReviewFrontiers in neurology2021

Paroxysmal Genetic Movement Disorders and Epilepsy.

Claudio M de Gusmão, Lucas Garcia, Mohamad A Mikati, Samantha Su, Laura Silveira-Moriyama

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06585605 (A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes), which is not on this map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.7field-weighted citation impact, top 18% 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.

NCT06585605 recruitingnot on this mapstarted 2024, after this paper: background citation

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

TypeobservationalSponsorBoston Children's HospitalRan2024 to 2029Enrolled500ConditionsEpilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder
3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 23 citations in OpenAlex.

  1. Article
  2. Review
  3. Evaluating the Performance ofCombinatorial chemistry & high throughput screening · 2025
    Article
  4. Canine paroxysmal dyskinesia-a review.Frontiers in veterinary science · 2024
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. 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

5 authors at 5 institutions in 3 countries.

Claudio M de GusmãoDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.
Lucas GarciaDepartment of Medicine, Universidade 9 de Julho, São Paulo, Brazil.
Mohamad A MikatiDivision of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC, United States.
Samantha SuDivision of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC, United States.
Laura Silveira-MoriyamaDepartment of Neurology, Universidade Estadual de Campinas (UNICAMP), São Paulo, Brazil.
Boston Children's Hospital · USDuke Medical Center · USDuke University Hospital · USUniversidade Nove de Julho · BRUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. In recent years, there has been renewed interest and recognition of these disorders and their intersection with epilepsy, at the molecular and pathophysiological levels. In this review, we discuss how these distinct phenotypes were constructed from a historical perspective and discuss how they are currently coalescing into established genetic etiologies with extensive pleiotropy, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing. We discuss insights on the pathophysiology of select disorders and describe shared mechanisms that overlap treatment principles in some of these disorders. In the near future, it is likely that a growing number of genes will be described associating movement disorders and epilepsy, in parallel with improved understanding of disease mechanisms leading to more effective treatments.

Indexed as

episodic ataxiageneralized epilepsy and paroxysmal dyskinesiainfantile convulsions and choreoathetosis syndromeparoxysmal exercise induced dyskinesiaparoxysmal kinesigenic dyskinesiaparoxysmal non-kinesigenic dyskinesia

Identifiers

PMID33833732
PMCPMC8021799
OpenAlexW3138753601

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.