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Article

Clinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy.

American journal of clinical pathology - 2 May 2024

Duan Zejun, Xu Ke, Xie Mingguo, Tian Xiaolin, Wang Xiongfei, Feng Jing, Guan Yuguang, Zhou Jian, Luan Guoming, Qi Xueling, Lu Dehong

Abstract excerpt

OBJECTIVES: We aimed to investigate the clinicopathologic features of and genetic changes in Sturge-Weber syndrome (SWS) in patients with refractory epilepsy. METHODS: Clinical data were retrospectively analyzed. H&E and immunohistochemistry were performed to assess pathologic changes. Targeted amplicon sequencing was applied to investigate the somatic GNAQ (c.548G>A) mutation. The potential predictors of seizure...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38217527
DOI: 10.1093/ajcp/aqad174

Genes

GNAQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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