A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review

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.

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Publication Details

Journal
Frontiers in Neuroscience
Published
2026-03-03
DOI
https://doi.org/10.3389/fnins.2026.1751535
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
0.00
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article

A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review

Yi Zhi, Zhenfeng Song, Jiashuo Li, Yixuan Zhang et al.
Frontiers in Neuroscience
Glycogen Storage Diseases and Myoclonus
article

A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review

Yi Zhi, Zhenfeng Song, Jiashuo Li, Yixuan Zhang, Feng Li, Jiao Xue, Chengqing Yang, Ying Zhang, Kaixuan Liu
article en

Abstract

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.

Frontiers in NeuroscienceVol. 20
Qingdao University (CN), Affiliated Hospital of Qingdao University (CN)
Openalex Percentile: Top 35%
Glycogen Storage Diseases and Myoclonus
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