Article
Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.
CNS neuroscience & therapeutics - 1 Sept 2026
Cui Liya, Ma Kaiyue, Fu Xiaona, Ge Lin, Jia Bingbing, Ma Wenna, Yang Lei, Liu Zhimei, Lv Junlan, Xu Wenmiao, Wang Lijuan, Zhao Guangyuan, Li Jiuwei, Wu Jie, Wang Quan, Ding Changhong, Ren Xiaotun, Shen Xinming, Xiong Hui
Abstract excerpt
AIMS: To characterize the clinical, electrophysiological, and genetic spectrum of pediatric CMS and evaluate genotype-informed outcomes using an integrated phenotype-electrophysiology-genomics approach. METHODS: We retrospectively reviewed 36 pediatric CMS patients evaluated at a single center between 2015 and 2025. Clinical features, RNS, targeted NGS/WES variants, ventilator use, treatments, ACMG/AMP...
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- Humans
- Female
- Male
- Myasthenic Syndromes, Congenital
- Phenotype