Evidence map›Paper›PMID 41268177›Full record

ArticleBrain communications2025

Novel, complex configurations of the

Mark F Bennett, Mark A Corbett, Thessa Kroes, Laura Canafoglia, Karen L Oliver, Jillian M Cameron, Neblina Sikta, Jacob Munro, Liam G Fearnley, Kristina Ibañez and 12 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. 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

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

22 authors.

Mark F BennettPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.ORCID https://orcid.org/0000-0002-3561-6804
Mark A CorbettRobinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.ORCID https://orcid.org/0000-0001-9298-3072
Thessa KroesRobinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.
Laura CanafogliaDepartment of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
Karen L OliverPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Jillian M CameronEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Neblina SiktaEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Jacob MunroPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Liam G FearnleyPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Kristina IbañezWilliam Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Arianna TucciWilliam Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-1511-5893
Michael S HildebrandEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.ORCID https://orcid.org/0000-0003-2739-0515
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Carolina CourageFolkhälsan Research Center, Helsinki 00290, Finland.
Anna-Elina LehesjokiFolkhälsan Research Center, Helsinki 00290, Finland.ORCID https://orcid.org/0000-0003-4014-3113
Loretta GiulianoDepartment of Medical and Surgical Sciences and Advanced Technologies 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania 95123, Italy.
Giuseppe DidatoDepartment of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
Silvana FranceschettiDepartment of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.ORCID https://orcid.org/0000-0002-1921-6755
Jozef GeczRobinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.ORCID https://orcid.org/0000-0002-7884-6861
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.ORCID https://orcid.org/0000-0003-4580-841X
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.ORCID https://orcid.org/0000-0001-5132-0774

Funding

Wellcome Trust
6 · The paper itself

Abstract

Repeat expansions are a known cause of progressive myoclonic epilepsy (PME) and familial adult myoclonic epilepsy (FAME). We hypothesized that PME and FAME may have an overlapping phenotypic spectrum and searched for pathogenic repeat expansions in 18 individuals from 15 families with later-onset PME or FAME. We generated whole genome sequencing data by short-read sequencing and searched for known and novel repeat expansions. No known, pathogenic repeat expansions were identified. Instead, we discovered a novel TTGTA expansion in the gene

Indexed as

epilepsy geneticsFAME3pentanucleotide repeat disordersshort tandem repeatswhole genome sequencing

Identifiers

PMID41268177
PMCPMC12628750

What OpenQuestion 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 OpenQuestion graph.