Evidence map›Paper›PMID 41332841›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Sian Macdonald, Timothy E Green, Zimeng Ye, Thiuni Adikari, Kristian Bulluss and 32 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

42 authors.

Breana GaleaEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Joshua ReidEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Samuel GooleyEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Tom WitkowskiEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Tara LaneEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Sian MacdonaldEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Timothy E GreenEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Zimeng YeEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Thiuni AdikariEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Kristian BullussDepartment of Neurosurgery, Austin Health, Heidelberg, Victoria, 3084 Australia.
Saul A MullenEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Caitlin A BennettEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Brialie ForsterEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Gabi BradshawMolecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.
Wendi LinMolecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.
Wasanthi De SilvaMolecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.
Rosita B RamirezDepartment of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America.
Sattar KhoshkhooDepartment of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America.
Sachin GuptaTY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.
Michael KrivanekDepartment of Histopathology, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.
Kavitha KothurTY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.
Deepak GillTY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.
Kate PopeMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Greta GilliesMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Matthew ColemanMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Wei-Shern LeeMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Sarah M StephensonMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Wirginia MaixnerDepartment of Neurosurgery, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
A Simon HarveyFlorey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.
Emma Macdonald-LaursFlorey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.
Katherine B HowellMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Colleen D'ArcyDepartment of Anatomical Pathology, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Paul J LockhartMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Richard J LeventerMurdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.
Renata M KalninsAnatomical Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.
Jonathan ClarkAnatomical Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia.
Mark F BennettEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Melanie BahloGenetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Piero PeruccaEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.
Michael S HildebrandEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.

Funding

Genetic and Cellular Mechanisms of Temporal Lobe EpilepsyK08NS128272 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI Sattar Khoshkhoo · 2022 to 2026
$1.2M
NINDS NIH HHS K08 NS128272NINDS NIH HHS L30 NS118655
6 · The paper itself

Abstract

Focal cortical dysplasias (FCDs) are malformations of cortical development associated with drug-resistant focal epilepsy. We analysed surgical tissue from 28 consecutive cases recruited from adult and pediatric epilepsy surgery programs. We performed high-depth sequencing of lesional tissue, validated somatic variants using droplet digital PCR, and investigated genotype-phenotype correlations. A pathogenic or likely pathogenic variant was detected in 71% (n=20/28) of cases. Of these, six cases with FCDIIa or FCDIIb had germline variants in

Indexed as

dysplasiaepilepsyepilepsy surgerylesionmosaicismsequencing

Identifiers

PMID41332841
PMCPMC12668077

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.