Evidence map›Paper›PMID 41283299›Full record

ArticleNeuroSci2025

Compound Heterozygous

Francesca Ragona, Giuliana Messina, Stefania Magri, Fabio Martino Doniselli, Elena Freri, Laura Canafoglia, Roberta Solazzi, Cinzia Gellera, Tiziana Granata, Jacopo C DiFrancesco and 1 more

Abstract read
In one paragraph

Article in NeuroSci, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

11 authors.

Francesca RagonaDepartment of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0003-1399-8271
Giuliana MessinaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-5889-2342
Stefania MagriUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-9610-7544
Fabio Martino DoniselliDepartment of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-2272-7855
Elena FreriDepartment of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-2293-8687
Laura CanafogliaDepartment of Epileptology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-5385-761X
Roberta SolazziDepartment of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0001-6657-3328
Cinzia GelleraUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Tiziana GranataDepartment of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Jacopo C DiFrancescoDepartment of Neurology, Fondazione IRCCS S. Gerardo dei Tintori, 20900 Monza, Italy.ORCID 0000-0002-4102-1188
Barbara CastellottiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-9098-3041

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Microcephaly with early-onset, intractable seizures, and developmental delay (MCSZ) is a rare inherited neurological disorder caused by biallelic loss-of-function variants in the

Indexed as

developmental and epileptic encephalopathyepilepsymicrocephalyNGSPNKP

Identifiers

PMID41283299
PMCPMC12641809

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.