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Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.

Seizure - 1 Oct 2024

Feng Weixing, Wang Zihan, Wang Xiaohui, Chen Shuhua, Chen Xiaoyi, Chen Chunhong, Deng Jie, Zhuo Xiuwei, Wang Jing

Abstract excerpt

PURPOSE: PCDH19 gene variants, termed PCDH19 clustering epilepsy, represent a distinct etiology of epilepsy. This study aimed to elucidate the clinical manifestations and explore the genotypes and phenotypes of children affected by PCDH19 clustering epilepsy. METHODS: This retrospective study included medical history, magnetic resonance imaging, video-electroencephalography, and genetic analysis of patients...

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PMID: 39146709
DOI: 10.1016/j.seizure.2024.07.023

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