Evidence map›Paper›PMID 37119372›Full record

ArticleJournal of neurology2023

The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.

Karina Paliotti, Christelle Dassi, Saoussen Berrahmoune, Marlin Liz Bejaran, Carlos Eduardo Valera Davila, Ariadna Borràs Martinez, Maria Carme Fons Estupiñà, Maria Margherita Mancardi, Antonella Riva, Thea Giacomini and 5 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.5field-weighted citation impact, top 20% of its field
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

5 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Women With Genetic Epilepsies.Neurology. Genetics · 2025
    Review
  4. Article
  5. 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

15 authors at 5 institutions in 3 countries.

Karina PaliottiFaculty of Medicine and Health Sciences, McGill University, Montreal, QC, Canada.
Christelle DassiResearch Institute of the McGill University Health Centre, Montreal, QC, Canada.
Saoussen BerrahmouneResearch Institute of the McGill University Health Centre, Montreal, QC, Canada.
Marlin Liz BejaranPediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain.
Carlos Eduardo Valera DavilaPediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain.
Ariadna Borràs MartinezPediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain.
Maria Carme Fons EstupiñàPediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain.
Maria Margherita MancardiEpilepsy Center, Reference Center for Rare and Complex Epilepsies-EpiCARE, IRCCS Istituto Gaslini, Genoa, Italy.
Antonella RivaPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Gaslini, University of Genoa, Genoa, Italy.
Thea GiacominiNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Mariasevina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Romina RomanielloChild Neuropsychiatry and Neurorehabilitation Department, Scientific Institute Eugenio Medea, La Nostra Famiglia, Lecco, Italy.
François DubeauDepartment of Neurology and Neurosurgery, McGill University Health Centre, Montreal, QC, Canada.
Myriam SrourResearch Institute of the McGill University Health Centre, Montreal, QC, Canada.
Kenneth A MyersResearch Institute of the McGill University Health Centre, Montreal, QC, Canada. kenneth.myers@mcgill.ca.ORCID http://orcid.org/0000-0001-7831-4593
Hospital Sant Joan de Déu Barcelona · ESIstituto Giannina Gaslini · ITMcGill University Health Centre · CAMontreal Children's Hospital · CAIRCCS Eugenio Medea · IT

Funding

Fonds de Recherche du Québec - Santé 282228Fonds de Recherche du Québec - Santé 295639
6 · The paper itself

Abstract

backgroundPeriventricular nodular heterotopia (PVNH) is a congenital brain malformation often associated with seizures. We aimed to clarify the spectrum of epilepsy phenotypes in PVNH and the significance of specific brain malformation patterns.

methodsIn this retrospective cohort study, we recruited people with PVNH and a history of seizures, and collected data via medical record review and a standardized questionnaire.

resultsOne hundred individuals were included, aged 1 month to 61 years. Mean seizure onset age was 7.9 years. Ten patients had a self-limited epilepsy course and 35 more were pharmacoresponsive. Fifty-five had ongoing seizures, of whom 23 met criteria for drug resistance. Patients were subdivided as follows: isolated PVNH ("PVNH-Only") single nodule (18) or multiple nodules (21) and PVNH with additional brain malformations ("PVNH-Plus") single nodule (8) or multiple nodules (53). Of PVNH-Only single nodule, none had drug-resistant seizures. Amongst PVNH-Plus, 55% with multiple unilateral nodules were pharmacoresponsive, compared to only 21% with bilateral nodules. PVNH-Plus with bilateral nodules demonstrated the highest proportion of drug resistance (39%). A review of genetic testing results revealed eight patients with pathogenic or likely pathogenic single-gene variants, two of which were FLNA. Five had copy number variants, two of which were pathogenic.

conclusionsThe spectrum of epilepsy phenotypes in PVNH is broad, and seizure patterns are variable; however, epilepsy course may be predicted to an extent by the pattern of malformation. Overall, drug-resistant epilepsy occurs in approximately one quarter of affected individuals. When identified, genetic etiologies are very heterogeneous.

Indexed as

Drug Resistant EpilepsyEpilepsyPeriventricular Nodular HeterotopiaAdolescentAdultChildChild, PreschoolElectroencephalographyHumansInfantMagnetic Resonance ImagingMiddle AgedRetrospective StudiesSeizuresYoung AdultEpilepsyGenetic aetiologyGrey matter heterotopiaPeriventricular nodular heterotopia

Identifiers

PMID37119372
OpenAlexW4367394862

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.