Evidence map›Paper›PMID 39200163›Full record

ArticleBiomedicines2024

The Biallelic Inheritance of Two Novel

Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori and 7 more

Abstract read
In one paragraph

Article in Biomedicines, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. A 350 kbGenes · 2026
    Article
  3. Review
  4. Article
  5. 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

17 authors.

Giorgia DinoiDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.
Elena ConteDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0001-8571-5125
Orazio PalumboDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0001-6583-3482
Mario BenvenutoDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-3186-0199
Maria Antonietta CoppolaDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.
Pietro PalumboDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0001-9498-9902
Patrizia LastellaCentro Sovraziendale Malattie Rare, UOC Medicina Interna Universitaria "C. Frugoni", AOU Policlinico Consorziale di Bari, 70124 Bari, Italy.
Brigida BoccanegraDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0002-1078-8490
Ester Di MuroDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-2588-9841
Marco CastoriDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Massimo CarellaDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-6830-6829
Vittorio SciruicchioChildren Epilepsy and EEG Center, Ospedale San Paolo di Bari, 70123 Bari, Italy.ORCID 0000-0003-2388-573X
Marina de TommasoDiBraiN Department, University of Bari "Aldo Moro", 70124 Bari, Italy.ORCID 0000-0001-6567-5373
Antonella LiantonioDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.
Annamaria De LucaDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0002-5652-7341
Angela La NeveDiBraiN Department, University of Bari "Aldo Moro", 70124 Bari, Italy.
Paola ImbriciDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0001-9140-5350

Funding

European Union - Next Generation EU - Ministero della Salute PNRR M6/C2 PNRR-MR1-2022-12376642NEXTGENERATIONEU (NGEU), Italian Ministry of University and Research (MUR), National Recovery and Resilience Plan (NRRP) project MNESYS (PE0000006)
6 · The paper itself

Abstract

Loss-, gain-of-function and mixed variants in

Indexed as

biallelic inheritanceepilepsyNav1.1patch-clampSCN1A

Identifiers

PMID39200163
PMCPMC11351414

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.