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Article

Phenotypic and genotypic characteristics of children STXBP1-related disorders.

Seizure - 1 Aug 2026

Feng Weixing, Li Haoxuan, Chen Shuhua, Zhuo Xiuwei, Wang Jing, Wu Yun

Abstract excerpt

PURPOSE: STXBP1 mutations are a leading genetic cause of neurodevelopmental disorders. This study seeks to clarify the clinical features and explore the genotypes and phenotypes of children with STXBP1-related conditions. METHODS: We conducted a thorough analysis of medical histories, MRI findings, video-EEG recordings, and genetic data from patients with STXBP1-related disorders at Beijing Children's Hospital...

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Source

Identifiers

PMID: 42247924
DOI: 10.1016/j.seizure.2026.05.001

Genes

STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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