Evidence map›Paper›PMID 40634438›Full record

ArticleScientific reports2025

Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures.

Stefania Scalise, Alessandro Gaeta, Elio Aprigliano, Valeria Lucchino, Raffaele Covello, Mariagrazia Talarico, Barbara Puccio, Pietro Hiram Guzzi, Pierangelo Veltri, Antonio Gambardella and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific 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

19 authors.

Stefania Scalise *Department of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Alessandro Gaeta *Department of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy.
Elio ApriglianoDepartment of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Valeria LucchinoDepartment of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Raffaele CovelloDepartment of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Mariagrazia TalaricoDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Barbara PuccioDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Pietro Hiram GuzziDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Pierangelo VeltriDepartment of Informatics, Modeling, Electronics and Systems, University of Calabria, Rende, Italy.
Antonio GambardellaDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Lilian Juliana LissnerDepartment of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy.
Alessandra MoranoDepartment of Human Neurosciences, Sapienza University, Rome, Italy.
Pierangelo CifelliDepartment of Applied Clinical and Biotechnological Sciences, University of L'Aquila, L'Aquila, Italy.
Veronica AlfanoIRCCS San Raffaele Roma, Rome, Italy.
Eleonora PalmaDepartment of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy.
Gerardo PerozzielloDepartment of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Gabriele RuffoloDepartment of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy. gabriele.ruffolo@uniroma1.it.
Giovanni CudaDepartment of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Elvira Immacolata ParrottaDepartment of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.

Funding

AICE-FIRE AICE-FIRE 2022Ministero dell'Istruzione, dell'Università e della Ricerca 2022J2ARSTMinistero dell'Istruzione, dell'Università e della Ricerca PRIN-PNRR 2022Ministero dell'Università e della Ricerca PNC 0000001Sapienza Università di Roma RM11916B84D24429University of L' Aquila 07_DISCAB_grant_2024
6 · The paper itself

Abstract

Febrile seizures (FS) are a common childhood neurological condition triggered by fever in children without prior neurological disorders. While generally benign, some individuals, particularly those with complex FS or genetic predispositions, may develop epilepsy or other neurological comorbidities. The mechanisms underlying this transition remain unclear. Mutations in SCN1A, encoding the Na

Indexed as

NAV1.1 Voltage-Gated Sodium ChannelSeizures, FebrileTranscriptomeBrain-Derived Neurotrophic FactorChildChild, PreschoolEpilepsy, Temporal LobeFemaleHumansInduced Pluripotent Stem CellsMaleMutationNeuronsPhenotypeReceptors, AMPAReceptors, GABA-ABrain-Derived Neurotrophic FactorNAV1.1 Voltage-Gated Sodium ChannelReceptors, AMPAReceptors, GABA-ASCN1A protein, humanFebrile seizureGABAergic dysfunctionInduced pluripotent stem cell-derived neuronsMesial temporal lobe epilepsySCN1AVoltage-clamp recordingsVoltage-gated sodium channel NaV1.1

Identifiers

PMID40634438
PMCPMC12241342

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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.