Evidence map›Paper›PMID 38693632›Full record

ArticleAnnals of clinical and translational neurology2024

Epilepsy in Duchenne and Becker muscular dystrophies.

Jesus Alfonso Armijo Gómez, Miguel A Fernandez-Garcia, Ana Camacho, Marlin Liz, Carlos Ortez, Miguel Lafuente-Hidalgo, Laura Toledo Bravo-de Laguna, Berta Estévez-Arias, Laura Carrera-García, Jessica Expósito-Escudero and 3 more

Open access · goldAbstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 45% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

13 authors at 5 institutions in 1 country.

Jesus Alfonso Armijo GómezNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Miguel A Fernandez-GarciaNeuromuscular Unit, Hospital La Paz, Madrid, Spain.
Ana CamachoDivision of Pediatric Neurology, Department of Neurology, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain.
Marlin LizEpilepsy Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Carlos OrtezNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Miguel Lafuente-HidalgoDepartment of Pediatrics, Hospital Miguel Servet, Zaragoza, Spain.
Laura Toledo Bravo-de LagunaDepartment of Pediatrics, Hospital Materno-Infantil, Las Palmas de Gran Canaria, Spain.
Berta Estévez-AriasNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Laura Carrera-GarcíaNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Jessica Expósito-EscuderoNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Jana Domínguez-CarralEpilepsy Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.ORCID 0000-0002-7197-7391
Andres NascimentoNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Daniel Natera-de BenitoNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.ORCID 0000-0001-7764-2085
Hospital Sant Joan de Déu Barcelona · ESHospital Materno-Infantil · ESHospital Universitario La Paz · ESHospital Universitario Miguel Servet · ESUniversidad Complutense de Madrid · ES

Funding

European Union CP22/00141Instituto de Salud Carlos III, Spain CP22/00141
6 · The paper itself

Abstract

objectiveDuchenne and Becker muscular dystrophies (DMD and BMD) are dystrophinopathies caused by variants in DMD gene, resulting in reduced or absent dystrophin. These conditions, characterized by muscle weakness, also manifest central nervous system (CNS) comorbidities due to dystrophin expression in the CNS. Prior studies have indicated a higher prevalence of epilepsy in individuals with dystrophinopathy compared to the general population. Our research aimed to investigate epilepsy prevalence in dystrophinopathies and characterize associated electroencephalograms (EEGs) and seizures.

methodsWe reviewed 416 individuals with dystrophinopathy, followed up at three centers between 2010 and 2023, to investigate the lifetime epilepsy prevalence and characterize EEGs and seizures in those individuals diagnosed with epilepsy. Associations between epilepsy and type of dystrophinopathy, genotype, and cognitive involvement were studied.

resultsOur study revealed a higher epilepsy prevalence than the general population (1.4%; 95% confidence interval: 0.7-3.2%), but notably lower than previously reported in smaller dystrophinopathy cohorts. No significant differences were found in epilepsy prevalence between DMD and BMD or based on underlying genotypes. Cognitive impairment was not found to be linked to higher epilepsy rates. The most prevalent epilepsy types in dystrophinopathies resembled those observed in the broader pediatric population, with most individuals effectively controlled through monotherapy.

interpretationThe actual epilepsy prevalence in dystrophinopathies may be markedly lower than previously estimated, possibly half or even less. Our study provides valuable insights into the epilepsy landscape in individuals with dystrophinopathy, impacting medical care, especially for those with concurrent epilepsy.

Indexed as

EpilepsyMuscular Dystrophy, DuchenneAdolescentAdultChildChild, PreschoolComorbidityDystrophinElectroencephalographyFemaleHumansMaleMiddle AgedPrevalenceYoung AdultDystrophin

Identifiers

PMID38693632
PMCPMC11187830
OpenAlexW4396599627

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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.