Evidence map›Paper›PMID 41751517›Full record

ArticleGenes2026

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Beata Chałupczyńska, Elżbieta Ciara, Paulina Halat-Wolska, Agnieszka Pollak, Piotr Stawiński, Dorota Jurkiewicz, Dorota Piekutowska-Abramczuk, Marzena Gawlik, Justyna Pietrasik, Agata Cieślikowska and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. 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

19 authors.

Beata ChałupczyńskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.ORCID 0009-0004-1782-8127
Elżbieta CiaraDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.ORCID 0000-0002-1065-7968
Paulina Halat-WolskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.ORCID 0000-0002-1064-0277
Agnieszka PollakDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0002-2847-1782
Piotr StawińskiDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.
Dorota JurkiewiczDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.
Dorota Piekutowska-AbramczukDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.
Marzena GawlikDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.
Justyna PietrasikDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.
Agata CieślikowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.ORCID 0000-0003-0603-7763
Dorota WicherDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.ORCID 0000-0002-8360-0006
Agata UlatowskaDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.
Dominika JedlińskaDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.
Julita BorkowskaDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.
Dariusz ChmielewskiDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.
Dorota Dunin-WąsowiczDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.ORCID 0000-0003-1316-8745
Katarzyna Kotulska-JóźwiakDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, Member of the European Reference Network EpiCARE, 04-730 Warsaw, Poland.
Krystyna ChrzanowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.ORCID 0000-0003-3888-0624
Agnieszka Madej-PilarczykDepartment of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.ORCID 0009-0003-7671-2848

Funding

CMHI, MEiN CMHI M39/19, MEiN 7071/IB/SN/2020, MEiN 7088/II-KDM/SN/2020.
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

EpilepsyHigh-Throughput Nucleotide SequencingAdolescentChildChild, PreschoolExome SequencingFemaleGenetic TestingHumansInfantKCNQ2 Potassium ChannelMaleMutationNAV1.1 Voltage-Gated Sodium ChannelPolandKCNQ2 Potassium ChannelKCNQ2 protein, humanNAV1.1 Voltage-Gated Sodium ChannelSCN1A protein, humandevelopmental and epileptic encephalopathyDravet syndromeepilepsygenetic testingmolecular profilenext-generation sequencingpediatric populationrare disease

Identifiers

PMID41751517
PMCPMC12940239

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.