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Article

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

Journal of medical genetics - 20 Mar 2025

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

Abstract excerpt

BACKGROUND: Increasing evidence indicates a robust correlation between epilepsy and variants of the Kv7.2 (KCNQ2) channel, which is critically involved in directing M-currents and regulating neuronal excitability within the nervous system. With the advancement of next-generation sequencing, the identification of KCNQ2 variants has surged. Nonetheless, their functional impacts are still being determined,...

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Identifiers

PMID: 39832895
DOI: 10.1136/jmg-2024-110141

Genes

KCNQ2

Variants

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Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy.PMID 39832895Read ↗

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