Evidence map›Paper›PMID 41153369›Full record

ArticleGenes2025

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.

Deniz Sunnetci-Akkoyunlu, Bulent Kara, Tolgahan Ozer, Adnan Deniz, Ayfer Sakarya-Gunes, Elif Busra Isik, Buket Dogruoglu, Zeynep Ilkay, Mehtap Yilmaz, Sumeyye Sahin and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Delineating theInternational journal of molecular sciences · 2026
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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

13 authors.

Deniz Sunnetci-AkkoyunluDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.ORCID 0000-0001-9297-8222
Bulent KaraDepartment of Pediatric Neurology, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.
Tolgahan OzerDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.ORCID 0000-0001-5427-3811
Adnan DenizDepartment of Pediatric Neurology, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.ORCID 0000-0002-9385-3787
Ayfer Sakarya-GunesDepartment of Pediatric Neurology, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.
Elif Busra IsikDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.
Buket DogruogluDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.ORCID 0000-0002-1138-7680
Zeynep IlkayDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.ORCID 0000-0001-7256-6992
Mehtap YilmazDepartment of Cardiac Surgery, University Hospital Erlangen, 91054 Erlangen, Germany.
Sumeyye SahinDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.
Seda Eren-KeskinDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.
Naci CineDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.
Hakan SavliDepartment of Medical Genetics, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDevelopmental and Epileptic Encephalopathy (DEE) is a severe and heterogeneous neurological disorder in infancy/early childhood. DEE's genetic and phenotypic variability complicates diagnosis and treatment. This retrospective study aimed to identify genetic variants and explore genotype-phenotype correlations in children with DEE using a targeted epilepsy gene panel (TGP) and Whole Exome Sequencing (WES). PATIENTS AND

methodsMedical records of children who underwent custom-designed 55-gene TGP and WES were reviewed. The diagnostic yield of each method was determined based on the detection of pathogenic (P) and likely pathogenic (LP) variants.

resultsA total of 129 patients (66 males, 63 females) underwent TGP, which identified P/LP variants in 29 cases (22.48%). Variants were detected in

conclusionsThese findings highlight the extensive genetic heterogeneity and phenotypic variability of DEE. WES demonstrates substantial value in identifying novel gene-disease associations and may be considered as a first-tier diagnostic tool in epilepsy and DEE.

Indexed as

EpilepsySpasms, InfantileChildChild, PreschoolExome SequencingFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansInfantMaleMutationRetrospective StudiesTurkeyCTBP1epileptic encephalopathyNALCNPIEZO2TSC1TSC2whole exome sequencing

Identifiers

PMID41153369
PMCPMC12562696

What Socratic holds

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LicenceCC BY
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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 Socratic graph.