Evidence map›Paper›PMID 36229163›Full record

ArticleAJNR. American journal of neuroradiology2022

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

B J Halliday, G Baynam, L Ewans, L Greenhalgh, R J Leventer, D T Pilz, R Sachdev, I E Scheffer, D M Markie, G McGillivray and 2 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in AJNR. American journal of neuroradiology, 2022. 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
0.6field-weighted citation impact, top 30% 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. Article
  2. [Zhu-Tokita-Takenouchi-Kim syndrome in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Article
  3. 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

12 authors at 11 institutions in 4 countries.

B J HallidayFrom the Departments of Women's and Children's Health (B.J.H., S.P.R.) benjamin.halliday@otago.ac.nz.ORCID 0000-0002-7330-7797
G BaynamWestern Australian Register of Developmental Anomalies and Genetic Services of Western Australia (G.B.), Undiagnosed Diseases Program, King Edward Memorial Hospital, Perth, Australia.
L EwansCentre for Population Genomics (L.E.), Garvan Institute of Medical Research, Sydney, Australia.
L GreenhalghLiverpool Centre for Genomic Medicine (L.G.), Liverpool Women's Hospital, Liverpool, England.
R J LeventerMurdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.ORCID 0000-0003-0362-5607
D T PilzWest of Scotland Genetics Service (D.T.P.), Queen Elizabeth University Hospital, Glasgow, UK.
R SachdevCentre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia.
I E SchefferMurdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.ORCID 0000-0002-2311-2174
D M MarkiePathology (D.M.M.), OtagoMedical School, University of Otago, Dunedin, New Zealand.ORCID 0000-0001-5452-9194
G McGillivrayMurdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.ORCID 0000-0002-3878-9057
S P RobertsonFrom the Departments of Women's and Children's Health (B.J.H., S.P.R.).ORCID 0000-0002-5181-7809
S MandelstamMurdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.ORCID 0000-0001-6287-0819
Women's & Children's Health Research Institute · AUGarvan Institute of Medical Research · AUKing Edward Memorial Hospital · AUMurdoch Children's Research Institute · AUQueen Elizabeth University Hospital · GBRoyal Children's Hospital · AUSydney Children's Hospital · AUThe University of Melbourne · AUUniversity of Liverpool · GBUniversity of Otago · NZVictorian Clinical Genetics Services · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background and purposeZhu-Tokita-Takenouchi-Kim syndrome is a severe multisystem malformation disorder characterized by developmental delay and a diverse array of congenital abnormalities. However, these currently identified phenotypic components provide limited guidance in diagnostic situations, due to both the nonspecificity and variability of these features. Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their presentation with the neuronal migration disorder, periventricular nodular heterotopia. MATERIALS AND

methodsIndividuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome were recruited from 2 sources, a high-throughput sequencing study of individuals with periventricular nodular heterotopia or from clinical diagnostic sequencing studies. We analyzed available brain MR images of recruited individuals to characterize periventricular nodular heterotopia distribution and to identify the presence of any additional brain abnormalities.

resultsPathogenic variants in

conclusionsThe recurrent neuroradiologic changes identified here represent an opportunity to guide diagnostic formulation of Zhu-Tokita-Takenouchi-Kim syndrome on the basis of brain MR imaging evaluation.

Indexed as

Brain DiseasesIntellectual DisabilityPeriventricular Nodular HeterotopiaBrainHumansMagnetic Resonance Imaging

Identifiers

PMID36229163
PMCPMC9731255
OpenAlexW4306155089

What OpenQuestion holds

Textmetadata
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.