Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy.

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Tác giả: Tianhua Cao, Ying Jia, Wenwen Jing, Di Mao, Lingdi Meng, Yuhuan Meng, Ziyue Peng, Shupei Qiao, Huilin Song, Yue Song, Shengbin Sui, Yang Xia, Li Xie, Shihui Yu, Jiahui Zhang, Xue Zhang, Yi Zhang

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Journal of medical genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 721009

BACKGROUND: Increasing evidence indicates a robust correlation between epilepsy and variants of the Kv7.2 ( METHODS: Whole-cell patch-clamp recordings, western blotting, and immunofluorescent staining were performed to elucidate the functional consequences of the identified variants. Moreover, coimmunoprecipitation techniques were conducted to explore protein interactions, thus facilitating a deeper understanding of the underlying pathogenetic mechanisms contributing to the disease. Ultimately, the effects of pharmacological interventions were evaluated in vitro using the patch-clamp technique. RESULTS: Herein, we identified 12 novel CONCLUSION: This study expanded the mutational spectrum of
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