Evidence map›Paper›PMID 41630925›Full record

ArticleNeurology. Genetics2026

Functional Characterization of a De Novo

Anna Corradi, Antonella Riva, Bruno Sterlini, Lisastella Morinelli, Alessandra Ludovico, Francesca Madia, Pasquale Striano, Martina Albini, Paola Vitale, Michael Pusch and 7 more

Abstract read
PubMed Full text at PMC Publisher
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

17 authors.

Anna CorradiDepartment of Experimental Medicine, University of Genoa, Italy.ORCID https://orcid.org/0000-0002-3449-9167
Antonella RivaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.ORCID https://orcid.org/0000-0001-9152-5571
Bruno SterliniDepartment of Experimental Medicine, University of Genoa, Italy.ORCID https://orcid.org/0000-0001-8247-4709
Lisastella MorinelliDepartment of Experimental Medicine, University of Genoa, Italy.ORCID https://orcid.org/0009-0009-2588-0802
Alessandra LudovicoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.ORCID https://orcid.org/0009-0002-9797-5754
Francesca MadiaUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.ORCID https://orcid.org/0000-0002-7807-1322
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.ORCID https://orcid.org/0000-0002-6065-1476
Martina AlbiniDepartment of Experimental Medicine, University of Genoa, Italy.ORCID https://orcid.org/0000-0001-5671-2742
Paola VitaleInstitute of Biophysics, National Research Council, Palermo, Italy.ORCID https://orcid.org/0000-0001-8725-7201
Michael PuschInstitute of Biophysics, National Research Council, Genoa, Italy.ORCID https://orcid.org/0000-0002-8644-8847
Giulia LombardoNeonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico "Rodolico-San Marco", San Marco Hospital, University of Catania, Italy.ORCID https://orcid.org/0009-0004-5448-4386
Maurizio EliaUnit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy.ORCID https://orcid.org/0000-0002-0414-1359
Nicolas ChatronGenetics Department, Hospices Civils de Lyon, Lyon, France.ORCID https://orcid.org/0000-0003-0538-0981
Gaetan LescaGenetics Department, Hospices Civils de Lyon, Lyon, France.ORCID https://orcid.org/0000-0001-7691-9492
Federico ZaraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.ORCID https://orcid.org/0000-0001-9744-5222
Raffaele FalsaperlaDepartment of Medical Science-Pediatrics, University of Ferrara, Italy.ORCID https://orcid.org/0000-0002-4482-3506
Loretta FerreraUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.ORCID https://orcid.org/0000-0003-0528-1158

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Pathogenic variants in the Methods: Three individuals with the Results: The same de novo pathogenic Discussion: These results revealed the multifaceted functional effect of A1659V variant on channel activity and highlighted the complex genotype-phenotype correlation underlying significant clinical and pharmacological variability in

Identifiers

PMID41630925
PMCPMC12854296

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.