Evidence map›Paper›PMID 42146894›Full record

ArticleNeurology. Genetics2026

Davide Politano, Simone Gana, Simona Orcesi, Valentina Serpieri, Elisa Rognone, Anna Pichiecchio, Cecilia Parazzini, Davide Tonduti, Elena Tartara, Enza Maria Valente and 1 more

Abstract read
In one paragraph

Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Davide PolitanoDepartment of Brain and Behavioral Sciences, University of Pavia, Italy.ORCID https://orcid.org/0000-0002-3795-1972
Simone GanaNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.ORCID https://orcid.org/0000-0001-6544-7135
Simona OrcesiDepartment of Brain and Behavioral Sciences, University of Pavia, Italy.ORCID https://orcid.org/0000-0001-8947-9342
Valentina SerpieriUnit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Italy.ORCID https://orcid.org/0000-0002-3553-0066
Elisa RognoneAdvanced Imaging Center and Artificial Intelligence, Department of Neuroradiology, IRCCS Mondino Foundation, Pavia, Italy.ORCID https://orcid.org/0009-0008-7627-5613
Anna PichiecchioDepartment of Brain and Behavioral Sciences, University of Pavia, Italy.ORCID https://orcid.org/0000-0002-5654-4088
Cecilia ParazziniCenter for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), Child Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.ORCID https://orcid.org/0000-0003-0364-8673
Davide TondutiCenter for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), Child Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.ORCID https://orcid.org/0000-0001-9371-7454
Elena TartaraEpilepsy Center, IRCCS Mondino Foundation, ERN Epicare Full Member, Pavia, Italy.ORCID https://orcid.org/0000-0003-1656-5420
Enza Maria ValenteNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.ORCID https://orcid.org/0000-0002-0600-6820
Edoardo ErrichielloNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.ORCID https://orcid.org/0000-0001-6346-1988

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Pathogenic variants in Methods: Three individuals with Results: Two participants carried the recurrent c.709G > A, p.(Glu237Lys) variant, whereas 1 had a novel substitution, c.606C > G, p.(Ser202Arg). All individuals exhibited severe neurodevelopmental impairment. Neuroimaging revealed complex brain malformations, particularly anterior-predominant pachygyria, as well as white matter and cerebellar abnormalities; 1 participant lacked overt cortical malformations. Discussion: These findings emphasize that

Identifiers

PMID42146894
PMCPMC13174565

What OpenQuestion holds

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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.