Evidence map›Paper›PMID 40013007›Full record

ArticleRespiratory medicine case reports2025

Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report.

N Garancini, M Ghezzi, A Farolfi, V Guaia, G Canali, V Fabiano, G V Zuccotti, E D'Auria

Abstract readCase Reports
In one paragraph

Article in Respiratory medicine case reports, 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

8 authors.

N GaranciniPediatric Department, Buzzi Children's Hospital, Milano, Italy.
M GhezziPediatric Department, Buzzi Children's Hospital, Milano, Italy.
A FarolfiPediatric Department, Buzzi Children's Hospital, Milano, Italy.
V GuaiaPediatric Department, Buzzi Children's Hospital, Milano, Italy.
G CanaliPediatric Department, Buzzi Children's Hospital, Milano, Italy.
V FabianoPediatric Department, Buzzi Children's Hospital, Milano, Italy.
G V ZuccottiPediatric Department, Buzzi Children's Hospital, Milano, Italy.
E D'AuriaPediatric Department, Buzzi Children's Hospital, Milano, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. We report the case of M., affected by a KCNT1-related drug-resistant epileptic encephalopathy, who presented fatal complications with massive hemoptysis due to SPCAs. We aim to increase the awareness regarding this infrequent but potentially severe clinical condition.

Identifiers

PMID40013007
PMCPMC11864159

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.