Evidence map›Paper›PMID 41635699›Full record

ArticleFrontiers in neuroscience2025

Novel

Serena Broggi, Kai-Nicolas Poppert, Matthias Mauritz, Gudrun Kalss, Markus Leitinger, Angela Abicht, Eugen Trinka, Fabio Rossini

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neuroscience, 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

8 authors.

Serena BroggiS.C. Neurology and Stroke Unit, ASST Sette Laghi, Varese, Italy.
Kai-Nicolas PoppertDepartment of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.
Matthias MauritzDepartment of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.
Gudrun KalssDepartment of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.
Markus LeitingerDepartment of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.
Angela AbichtMedical Genetics Center (MGZ), Munich, Germany.
Eugen TrinkaDepartment of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.
Fabio RossiniDepartment of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Sleep-related hypermotor epilepsy (SHE) is a rare epileptic syndrome characterized by nocturnal seizures that predominantly arise during sleep, featuring complex motor behaviors. Pathogenic variants in the nitrogen permease regulator-like 3 ( Case report: We present the case of a 61-year-old woman with a lifelong history of nocturnal paroxysmal events and focal epilepsy. She experienced stereotyped nocturnal episodes of focal motor seizures with retained consciousness, characterized by hyperkinetic activity and asymmetric posturing. Despite multiple antiseizure medications (ASMs), only carbamazepine (CBZ) provided long-term seizure freedom. Genetic testing revealed a novel heterozygous mutation in the Discussion: This case highlights the diagnostic challenges of SHE and the importance of genetic testing in drug-resistant epilepsy. The identified

Indexed as

hyperkinetic seizuremTORnocturnal frontal lobe epilepsynocturnal seizuresparoxysmal nocturnal dystoniapersonalized medicine

Identifiers

PMID41635699
PMCPMC12862829

What OpenQuestion holds

Textmetadata
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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.