Evidence map›Paper›PMID 39926610›Full record

ArticleBrain communications2025

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Matthew Coleman, Min Wang, Penny Snell, Wei Shern Lee, Colleen D'Arcy, Cristina Mignone, Kate Pope, Greta Gillies, Wirginia Maixner, Alison Wray and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 2025. 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. Review
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

16 authors.

Matthew ColemanMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.ORCID https://orcid.org/0000-0001-8627-3322
Min WangMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Penny SnellMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Wei Shern LeeMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Colleen D'ArcyDepartment of Anatomical Pathology, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Cristina MignoneDepartment of Medical Imaging, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Kate PopeMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Greta GilliesMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Wirginia MaixnerDepartment of Neurosurgery, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Alison WrayDepartment of Neurosurgery, The Royal Children's Hospital, Parkville, Victoria 3052, Australia.
A Simon HarveyMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Cas SimonsMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Richard J LeventerMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.ORCID https://orcid.org/0000-0003-0362-5607
Sarah E M StephensonMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Paul J LockhartMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.ORCID https://orcid.org/0000-0003-2531-8413
Katherine B HowellMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia.ORCID https://orcid.org/0000-0002-5469-8411

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Infantile epileptic spasms syndrome is a severe epilepsy of infancy that is often associated with focal malformations of cortical development. This study aimed to elucidate the genetic landscape and histopathologic aetiologies of infantile epileptic spasms syndrome due to focal malformations of cortical development requiring surgery. Fifty-nine children with a history of infantile epileptic spasms syndrome and focal malformations of cortical development on MRI were studied. Genetic testing of resected brain tissue was performed by high-coverage targeted panel sequencing or exome sequencing. Histopathology and MRI were reviewed, and integrated clinico-pathological diagnoses were established. A genetic diagnosis was achieved in 47 children (80% of cohort). Germline pathogenic variants were identified in 27/59 (46%) children, in

Indexed as

focal brain malformationinfantile epileptic spasms syndromemild malformation of cortical development with oligodendroglial hyperplasia in epilepsySLC35A2

Identifiers

PMID39926610
PMCPMC11806418

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Registered trials

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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.