Evidence map›Paper›PMID 39859528›Full record

ArticleInternational journal of molecular sciences2025

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

Jana Marie Schwarz, Lena-Luise Becker, Monika Wahle, Jessica Faßbender, Ulrich-Wilhelm Thomale, Anna Tietze, Susanne Morales-Gonzalez, Ellen Knierim, Markus Schuelke, Angela M Kaindl

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026
    Review
  2. 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.

Jana Marie SchwarzDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.ORCID 0000-0002-7048-208X
Lena-Luise BeckerDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.ORCID 0000-0003-4622-8695
Monika WahleDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Jessica FaßbenderDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Ulrich-Wilhelm ThomaleDepartment of Pediatric Neurosurgery, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Augustenburger Platz 1, 13353 Berlin, Germany.
Anna TietzeInstitute of Neuroradiology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Augustenburger Platz 1, 13353 Berlin, Germany.
Susanne Morales-GonzalezDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.ORCID 0000-0001-7279-2092
Ellen KnierimDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Markus SchuelkeDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.ORCID 0000-0003-2824-3891
Angela M KaindlDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.ORCID 0000-0001-9454-206X

Funding

Deutsche Forschungsgemeinschaft EXC-2049-390688087Einstein Stiftung Fellowship through the Günter Endres Fond no number availableFederal Ministry of Education and Research, Germany German Center for Child and Adolescent Health (DZKJ)Sonnenfeld-Stiftung no number available
6 · The paper itself

Abstract

Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms. We therefore used whole exome sequencing (WES) to search for potentially pathogenic somatic DNA variants in brain samples from children with lesional epilepsy who underwent epilepsy surgery. WES was performed on 20 paired DNA samples extracted from both lesional brain tissue and reference tissue from the same patient, such as leukocytes or fibroblasts. The paired WES data were jointly analyzed using GATK Mutect2 to identify somatic single nucleotide variants (SNVs) or insertions/deletions (InDels), which were subsequently evaluated in silico for their disease-causing potential using MutationTaster2021. We identified known pathogenic somatic variants in five patients (25%) with variant allele frequencies (VAF) ranging from 3-35% in the genes

Indexed as

BrainEpilepsyAdolescentChildChild, PreschoolClass I Phosphatidylinositol 3-KinasesExome SequencingFemaleGene FrequencyHumansINDEL MutationMaleMutationPolymorphism, Single NucleotideReceptor, Fibroblast Growth Factor, Type 1TOR Serine-Threonine KinasesClass I Phosphatidylinositol 3-KinasesFGFR1 protein, humanMTOR protein, humanPIK3CA protein, humanReceptor, Fibroblast Growth Factor, Type 1TOR Serine-Threonine KinasesTSC2 protein, humanTuberous Sclerosis Complex 2 ProteinDREdrug-resistant epilepsyepilepsy surgerygenetic epilepsyMutect2somatic variantsstructural epilepsyWES

Identifiers

PMID39859528
PMCPMC11766355

What Socratic 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 Socratic graph.