Evidence map›Paper›PMID 37748886›Full record

ArticleNeurology2023

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.

Sterre van der Veen, Gabrielle T W Tse, Alessandro Ferretti, Giacomo Garone, Bart Post, Nicola Specchio, Victor S C Fung, Marina Trivisano, Ingrid E Scheffer

Erratum issuedOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
7.2field-weighted citation impact, top 3% 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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Navigating diagnostic overlap between seizures and movement disorders: A practical clinical approach.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  5. Review
  6. Age-Related Characteristics of SYT1-Associated Neurodevelopmental Disorder.Annals of clinical and translational neurology · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024
    Review
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 1 institution in 3 countries.

Sterre van der VeenFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.ORCID https://orcid.org/0000-0003-0698-2087
Gabrielle T W TseFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.
Alessandro FerrettiFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.
Giacomo GaroneFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.
Bart PostFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.
Nicola SpecchioFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.ORCID https://orcid.org/0000-0002-8120-0287
Victor S C FungFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.
Marina TrivisanoFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.ORCID https://orcid.org/0000-0002-9841-8581
Ingrid E SchefferFrom the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia. scheffer@unimelb.edu.au.ORCID https://orcid.org/0000-0002-2311-2174
University Medical Center Groningen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesMovement disorders (MDs) are underrecognized in the developmental and epileptic encephalopathies (DEEs). There are now more than 800 genes implicated in causing the DEEs; relatively few of these rare genetic diseases are known to be associated with MDs. We identified patients with genetic DEEs who had MDs, classified the nature of their MDs, and asked whether specific patterns correlated with the underlying mechanism.

methodsWe classified the type of MDs associated with specific genetic DEEs in a large international cohort of patients and analyzed whether specific patterns of MDs reflected the underlying biological dysfunction.

resultsOur cohort comprised 77 patients with a genetic DEE with a median age of 9 (range 1-38) years. Stereotypies (37/77, 48%) and dystonia (34/77, 44%) were the most frequent MDs, followed by chorea (18/77, 23%), myoclonus (14/77, 18%), ataxia (9/77, 12%), tremor (7/77, 9%), and hypokinesia (6/77, 8%). In 47% of patients, a combination of MDs was seen. The MDs were first observed at a median age of 18 months (range day 2-35 years). Dystonia was more likely to be observed in nonambulatory patients, while ataxia was less likely. In 46% of patients, therapy was initiated with medication (34/77, 44%), deep brain stimulation (1/77, 1%), or intrathecal baclofen (1/77, 1%). We found that patients with channelopathies or synaptic vesicle trafficking defects were more likely to experience dystonia; whereas, stereotypies were most frequent in individuals with transcriptional defects. DISCUSSION: MDs are often underrecognized in patients with genetic DEEs, but recognition is critical for the management of these complex neurologic diseases. Distinguishing MDs from epileptic seizures is important in tailoring patient treatment. Understanding which MDs occur with different biological mechanisms will inform early diagnosis and management.

Indexed as

Brain DiseasesDystoniaDystonic DisordersMovement DisordersAdolescentAdultAtaxiaChildChild, PreschoolHumansInfantInfant, NewbornTremorYoung Adult

Identifiers

PMID37748886
PMCPMC10663013
OpenAlexW4387008259

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Registered trials

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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.