ArticleFrontiers in neuroscience2026
A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review.
Article in Frontiers in neuroscience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Warsaw breakage syndrome (WABS) is a rare disease caused by mutations in the DDX11 gene. It is characterized by severe growth restriction, microcephaly, and sensorineural hearing loss, and reports of coexisting epilepsy are even rarer. There are no studies on the focused synthesis of epilepsy phenotypes in WABS. Methods: A clinical review is conducted for a patient diagnosed with WABS. And a comprehensive search is performed using PubMed, Web of Science, and Scopus. We select only papers that report patients with WABS and epilepsy. Results: We present a boy exhibiting the core manifestations of this syndrome. In addition to growth restriction, microcephaly, and sensorineural hearing loss, he has experienced recurrent epileptic seizures since 7 months of age. The child showed resistance to multiple antiepileptic drugs, with seizure types progressing from focal to epileptic spasms. Whole-exome sequencing identified two variants in the patient's DDX11 gene: c.2120delT (p.F707Sfs*60) and c.1949-3C>T (splicing). A literature review identified a total of 7 previously reported children with WABS complicated by epilepsy, and we collected and summarized their clinical and genetic information. Conclusion: We report a child with WABS whose main symptom was epilepsy. This case expands the known mutation spectrum of WABS and provides a comprehensive summary of clinical and genetic data for WABS patients presenting with epilepsy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.