Evidence map›Paper›PMID 39596607›Full record

ArticleGenes2024

Two Novel Variants in the

Radha Procopio, Monica Gagliardi, Mariagrazia Talarico, Francesco Fortunato, Ilaria Sammarra, Anna Caterina Procopio, Paola Roncada, Donatella Malanga, Grazia Annesi, Antonio Gambardella

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. 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. Article
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

10 authors.

Radha ProcopioDepartment of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, 88100 Catanzaro, Italy.
Monica GagliardiDepartment of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, 88100 Catanzaro, Italy.ORCID 0000-0002-3386-9808
Mariagrazia TalaricoInstitute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100 Catanzaro, Italy.ORCID 0000-0002-7439-3973
Francesco FortunatoInstitute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100 Catanzaro, Italy.ORCID 0000-0001-8395-7809
Ilaria SammarraInstitute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100 Catanzaro, Italy.
Anna Caterina ProcopioDepartment of Health Sciences, Magna Graecia University, 88100 Catanzaro, Italy.
Paola RoncadaDepartment of Health Sciences, Magna Graecia University, 88100 Catanzaro, Italy.ORCID 0000-0002-0114-5872
Donatella MalangaLaboratory of Molecular Oncology, Department of Experimental and Clinical Medicine, Magna Graecia University, 88100 Catanzaro, Italy.ORCID 0000-0002-0491-7698
Grazia AnnesiInstitute for Biomedical Research and Innovation, National Research Council, 87050 Mangone, Italy.
Antonio GambardellaInstitute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100 Catanzaro, Italy.ORCID 0000-0001-7384-3074

Funding

Ministero dell'Istruzione e del Merito 2017ALCR7C.
6 · The paper itself

Abstract

backgroundFebrile seizures (FSs) are the most common form of epilepsy in children aged between six months and five years. The exact cause is unknown, but several studies have demonstrated the importance of genetic predisposition, with increasing involvement of receptors and ion channels. The present study aims to identify novel pathogenic variants in Italian patients with FSs.

methodsWe performed targeted panel sequencing in a cohort of 21 patients with FSs. In silico analysis was performed to predict the pathogenic role of the resulting variants.

resultsWe found two novel variants segregating in two families with FSs: c.1021C>G (p.Leu341Val) in the

conclusionsThe c.1021C>G (p.Leu341Val) variant leads to a codon change of highly conserved leucine to valine at position 341 and is located in segments M3 of the subunit, which is important for channel gating. The c.140A>G (p.Glu47Gly) variant causes a substitution of glutamic acid with glycine at position 47 of the protein, which is highly conserved across the species. Moreover, it is located in the N-terminal domain, a region commonly affected in ASD, which impacts the inactivation kinetics and voltage dependence of steady-state activation. Further analyses are needed to better explain the role of

Indexed as

NAV1.2 Voltage-Gated Sodium ChannelReceptors, NicotinicSeizures, FebrileChildChild, PreschoolFemaleGenetic Predisposition to DiseaseHumansInfantItalyMaleMutationPedigreeCHRNA2 protein, humanNAV1.2 Voltage-Gated Sodium ChannelReceptors, NicotinicSCN2A protein, humanCHRNA2febrile seizuresnicotinic acetylcholine receptor (nAChR)SCN2Avoltage-gated sodium channel (Nav) 1.2

Identifiers

PMID39596607
PMCPMC11593345

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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.