Evidence map›Paper›PMID 41018689›Full record

ArticleNeurology. Genetics2025

Targeted Therapy of

Elisabetta Cesaroni, Claudia Passamonti, Carla Marini

Abstract read
In one paragraph

Article in Neurology. Genetics, 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. 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

3 authors.

Elisabetta CesaroniChild Neurology and Psychiatry Unit, G. Salesi Pediatric Hospital; AOU delle Marche, Ancona, Italy; and.ORCID https://orcid.org/0000-0002-7177-4500
Claudia PassamontiPsychology Unit, AOU delle Marche, Ancona, Italy.ORCID https://orcid.org/0000-0003-3044-2865
Carla MariniChild Neurology and Psychiatry Unit, G. Salesi Pediatric Hospital; AOU delle Marche, Ancona, Italy; and.ORCID https://orcid.org/0000-0002-9212-2691

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: This report details a patient with a Methods: We describe clinical presentation, neuropsychological assessment, and genetic analysis. We conducted a literature review of published GRIA1-related disorders using PubMed, Simons Foundation Autism Research Initiative (SFARI) Gene, and ClinVar databases. Results: An 8-year-old girl with ID, focal-to-bilateral tonic clonic seizure since age 5, and later atypical absences was diagnosed with a novel, de novo Discussion: This case emphasizes the role of targeted interventions in the management of rare genetic disorders and underscores the potential of precision medicine in addressing GRIA1-related symptoms.

Identifiers

PMID41018689
PMCPMC12462425

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.