Evidence map›Paper›PMID 39596625›Full record

ReviewGenes2024

CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype.

Ivan Ruiz, Kimberly Wiltrout, Coral Stredny, Sonal Mahida

Abstract readReviewCase Reports
In one paragraph

Review in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Capicua Refines Mossy Fiber-CA3 Axon Targeting in the Late Postnatal Hippocampus.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    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

4 authors.

Ivan RuizDepartment of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.ORCID 0000-0001-5266-4990
Kimberly WiltroutDepartment of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Coral StrednyDepartment of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Sonal MahidaDepartment of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.ORCID 0000-0003-2059-1795

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic testing for neurodevelopmental disorders is now considered the standard of care for unexplained epilepsy as well as autism spectrum disorders, intellectual disability, and developmental delays with as many as 50% of individuals identified as having an underlying genetic etiology. Capicua (

methodsHere we review patients reported in the literature with

resultsWhole exome sequencing (WES) in this proband identified a novel paternally inherited likely pathogenic variant in

conclusionsThis family represents an expansion of the genotypic and phenotypic spectrum of

Indexed as

Neurodevelopmental DisordersRepressor ProteinsChildChild, PreschoolEpilepsyExome SequencingFemaleGenotypeHumansMalePedigreePhenotypeCIC protein, humanRepressor ProteinsautismCICdevelopmental delayepilepsyintellectual disabilityneurodevelopment

Identifiers

PMID39596625
PMCPMC11594087

What OpenQuestion holds

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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.