Evidence map›Paper›PMID 39641771›Full record

ReviewEpileptic disorders : international epilepsy journal with videotape2025

ILAE genetic literacy series: Focal cortical dysplasia.

Emma Macdonald-Laurs, Richard J Leventer, ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce**

Abstract readReview
In one paragraph

Review in Epileptic disorders : international epilepsy journal with videotape, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.medRxiv : the preprint server for health sciences · 2025
    Article
  6. Article
  7. ILAE genetic literacy series: Focal cortical dysplasia.Epileptic disorders : international epilepsy journal with videotape · 2025
    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

3 authors.

Emma Macdonald-LaursDepartment of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.ORCID https://orcid.org/0000-0002-9894-4610
Richard J LeventerDepartment of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.ORCID https://orcid.org/0000-0003-0362-5607
ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce**

Funding

Australia and New Zealand Child Neurology SocietyMurdoch Children's Research Institute
6 · The paper itself

Abstract

Focal cortical dysplasia (FCD) is a common cause of drug-resistant focal epilepsy in children and young adults and is often surgically remediable. The genetics of FCD are increasingly understood due to the ability to perform genomic testing including deep sequencing of resected FCD tissue specimens. There is clear evidence that FCD type II occurs secondary to both germline and somatic mTOR pathway variants, while emerging literature supports the role of SLC35A2, a glycosylation gene, in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). Herein, we provide a review of FCDs focusing on their clinical phenotypes, genetic basis, and management considerations when performing genetic testing in this patient group.

Indexed as

Drug Resistant EpilepsyEpilepsies, PartialMalformations of Cortical DevelopmentMalformations of Cortical Development, Group IFocal Cortical DysplasiaGenetic TestingHumansbottom‐of‐sulcus dysplasiafamilial focal epilepsyfocal epilepsy geneticsGATOR1mTOR

Identifiers

PMID39641771
PMCPMC11829622

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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 OpenQuestion graph.