Evidence map›Paper›PMID 40381056›Full record

ReviewCurrent neurology and neuroscience reports2025

Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.

Lisa M Clayton, Angeliki Vakrinou, Simona Balestrini, Sanjay M Sisodiya

Abstract readReview
In one paragraph

Review in Current neurology and neuroscience reports, 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. 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

4 authors.

Lisa M ClaytonDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Box 29, Queen Square, London, WC1N 3BG, UK. Lisa.clayton@ucl.ac.uk.ORCID http://orcid.org/0000-0002-1928-8054
Angeliki VakrinouDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Box 29, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0003-4363-468X
Simona BalestriniDepartment of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy.ORCID http://orcid.org/0000-0001-5639-1969
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Box 29, Queen Square, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-1511-5893

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purpose of reviewGenetic factors play an important contribution to the aetiology of epilepsy and may have implications for management. Whilst the study of monogenic epilepsies has predominantly centred around children, there is a critical need to understand the burden of monogenic epilepsies in adults. This understanding is essential to steer the application of genetic testing and to facilitate access to gene-driven therapies in adults with epilepsy. RECENT

findingsThe yield of diagnostic genetic testing in adults with epilepsy and neurodevelopmental disorders is similar to that in children (ranging from 23-50%). Distinct causal genes underlie the most common monogenic epilepsies identified in adulthood compared to childhood, although SCN1A is the most commonly implicated gene across both populations. Genetic diagnoses made in adults with epilepsy frequently have direct implications for clinical management. However, very few gene-driven therapies are supported by evidence from formal studies. Genetic testing should be considered in adults with unexplained epilepsy and may have important implications for management, including the potential for gene-driven therapies. However, further work is needed to understand the outcomes of gene-driven therapies in adults with epilepsy.

Indexed as

EpilepsyGenetic TherapyAdultGenetic TestingHumansAdults with epilepsyDevelopmental and epileptic encephalopathyGene-drivenGenetic epilepsyPrecision medicineWhole genome sequencing

Identifiers

PMID40381056
PMCPMC12085364

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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.