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

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第一作者: Yue,Song
第一单位: Heilongjiang Provincial Key Laboratory of Child Development and Genetic Research, Harbin Medical University, Harbin, Heilongjiang, China.;National Health Commission (NHC), Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, Harbin, Heilongjiang, China.;Department of Pediatrics, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
作者: Yue,Song [1] ; Yang,Xia [1] ; Ziyue,Peng [1] ; Yuhuan,Meng [2] ; Wenwen,Jing [3] ; Li,Xie [3] ; Tianhua,Cao [3] ; Jiahui,Zhang [3] ; Huilin,Song [3] ; Lingdi,Meng [3] ; Yi,Zhang [3] ; Shengbin,Sui [3] ; Di,Mao [3] ; Ying,Jia [3] ; Shupei,Qiao [3] ; Shihui,Yu [4] ; Xue,Zhang [5]
作者单位: Heilongjiang Provincial Key Laboratory of Child Development and Genetic Research, Harbin Medical University, Harbin, Heilongjiang, China.;National Health Commission (NHC), Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, Harbin, Heilongjiang, China.;Department of Pediatrics, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China. [1] KingMed School of Laboratory Medicine, Guangzhou Medical University, Guangzhou, Guangdong, China.;Guangzhou KingMed Transformative Medicine Institute Co. Ltd, Guangzhou, Guangdong, China. [2] Heilongjiang Provincial Key Laboratory of Child Development and Genetic Research, Harbin Medical University, Harbin, Heilongjiang, China.;National Health Commission (NHC), Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, Harbin, Heilongjiang, China. [3] KingMed School of Laboratory Medicine, Guangzhou Medical University, Guangzhou, Guangdong, China xuezhang@hrbmu.edu.cn zb-yushihui@kingmed.com.cn.;Guangzhou KingMed Transformative Medicine Institute Co. Ltd, Guangzhou, Guangdong, China. [4] Heilongjiang Provincial Key Laboratory of Child Development and Genetic Research, Harbin Medical University, Harbin, Heilongjiang, China xuezhang@hrbmu.edu.cn zb-yushihui@kingmed.com.cn.;National Health Commission (NHC), Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, Harbin, Heilongjiang, China.;McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China. [5]
DOI 10.1136/jmg-2024-110141
PMID 39832895
发布时间 2025-01-20
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