Observational studyJournal of neurology2020
Epilepsy in children with leukodystrophies.
Observational study in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
6 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.Cytotherapy · 2024Guideline
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.European journal of medical research · 2024Pooled it
- Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.Neurology. Genetics · 2026Article
- Risk of Seizures and Epilepsy in the Leukodystrophies.Pediatric neurology · 2026Article
- Seizures in childhood cerebral adrenoleukodystrophy.Developmental medicine and child neurology · 2025Observational
- Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany.Orphanet journal of rare diseases · 2025Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundEpilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types of leukodystrophies is unclear yet.
methodsA retrospective observational cohort study was performed on children diagnosed with leukodystrophies in Peking University First Hospital from January 2004 to June 2019, and the patients were followed for 5.5 years (0.4-14.2 years) after the first visit.
resultsA total of 333 patients were included. The overall incidence of epilepsy was 30.6% (102/333). Alexander disease had the highest incidence (77.3%, 51/66), followed by vanishing white matter disease (41.2%, 21/51), Canavan disease (33.3%, 1/3), megalencephalic leukoencephalopathy with subcortical cysts (32.1%, 9/28), X-linked adrenoleukodystrophy (23.1%, 3/13), Krabbe disease (18.8%, 3/16), metachromatic leukodystrophy (14.3%, 6/42), and Pelizaeus-Merzbacher disease (7.0%, 8/114). The incidence of epilepsy in leukodystrophies classified as astrocytopathies was higher than that in myelin disorders (55.9% vs. 11.2%, P < 0.001). Of the 102 patients with epilepsy, seizures were the chief complaint in 61.8% (63/102) and the initial symptom in 22.5% (23/102). The median age at seizure onset was 20.5 months (1 day-176 months). A total of 63.7% (65/102) of children were treated with antiepileptic drugs (AEDs), and the responder rate was 90.8% (59/65) at the last follow-up, including 71.2% (42/59) of children who were seizure free.
conclusionsEpilepsy was not uncommon in children with leukodystrophies. Children with Alexander disease had the highest incidence; whereas, children with Pelizaeus-Merzbacher disease had the lowest incidence. Children with leukodystrophies classified as astrocytopathies were more prone to have epilepsy than those classified as myelin disorders. Most children with leukodystrophies who presented with epilepsy showed a good response to antiepileptic drugs.
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