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Clinical and genetic analysis of 18 patients with KCNQ2mutations from South China.

The Turkish journal of pediatrics - 23 May 2024

Cao Binbin, Peng Bingwei, Tian Yang, Wang Xiuying, Li Xiaojing, Zhu Haixia, Shen Huiling, Chen Wenxiong

Abstract excerpt

BACKGROUND: We aimed to delineate the genotype and phenotype of patients with KCNQ2 mutations from South China. METHODS: Clinical manifestations and characteristics of KCNQ2 mutations of patients from South China were analyzed. Previous patients with mutations detected in this study were reviewed. RESULTS: Eighteen epilepsy patients with KCNQ2 mutations, including seven self-limited neonatal epilepsy (SeLNE), two...

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PMID: 38814296
DOI: 10.24953/turkjpediatr.2024.4593

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