Evidence map›Paper›PMID 34837042›Full record

ReviewNature reviews. Neurology2022

Genetic generalized epilepsies in adults - challenging assumptions and dogmas.

Bernd J Vorderwülbecke, Britta Wandschneider, Yvonne Weber, Martin Holtkamp

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 2 pooled it
–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

27 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. A practical guide to the updated seizure classification 2025.Epileptic disorders : international epilepsy journal with videotape · 2025
    Guideline
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. 'What's in a Name?' Naming Genetically Determined Movement Disorders: Gap and Controversy.Movement disorders : official journal of the Movement Disorder Society · 2026
    Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. The network neuropsychology of juvenile myoclonic epilepsy.Cortex; a journal devoted to the study of the nervous system and behavior · 2025
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

4 authors.

Bernd J VorderwülbeckeEpilepsy-Center Berlin-Brandenburg, Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0002-0528-4001
Britta WandschneiderDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0001-7181-2637
Yvonne WeberDepartment of Epileptology and Neurology, University of Aachen, Aachen, Germany.ORCID http://orcid.org/0000-0002-0806-5592
Martin HoltkampEpilepsy-Center Berlin-Brandenburg, Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany. martin.holtkamp@charite.de.ORCID http://orcid.org/0000-0003-2258-1670

Funding

Medical Research Council MR/T005335/1
6 · The paper itself

Abstract

Genetic generalized epilepsy (GGE) syndromes start during childhood or adolescence, and four commonly persist into adulthood, making up 15-20% of all cases of epilepsy in adults. These four GGE syndromes are childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. However, in ~20% of patients with GGE, characteristics of more than one syndrome are present. Novel insights into the genetic aetiology, comorbidities and prognosis of the GGE syndromes have emerged and challenge traditional concepts about these conditions. Evidence has shown that the mode of inheritance in GGE is mostly polygenic. Neuropsychological and imaging studies indicate similar abnormalities in unaffected relatives of patients with GGE, supporting the concept that underlying alterations in bilateral frontothalamocortical networks are genetically determined. Contrary to popular belief, first-line anti-seizure medication often fails to provide seizure freedom in combination with good tolerability. Nevertheless, long-term follow-up studies have shown that with advancing age, many patients can discontinue their anti-seizure medication without seizure relapses. Several outcome predictors have been identified, but prognosis across the syndromes is more homogeneous than previously assumed. Overall, overlap in pathophysiology, seizure types, treatment responses and outcomes support the idea that GGEs are not separate nosological entities but represent a neurobiological continuum.

Indexed as

EpilepsyEpilepsy, GeneralizedAdolescentAdultComorbidityElectroencephalographyHumansSeizuresSyndrome

Identifiers

What OpenQuestion holds

Textmetadata
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.