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Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children

Rapid Communications

Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children

Wu Fan
Ji Xinna
Shen Mengxiao
Cheng Peidi
Feng Shuo
Gao Yanyan
Liu Wanting
Chen Jinxiao
Li Shupin
Zhang Xue
Chen Qian
Genes & Diseases第12卷, 第2期纸质出版 2025-03-01在线发表 2024-05-09
2300

The KCNH7 (Potassium Voltage-Gated Channel Subfamily H Member 7) gene belongs to the Ether-A-Go-Go-Related Gene (ERG) subfamily of voltage-gated potassium channels. There are three members of the ERG family: ERG1, ERG2 and ERG3, with the latter being encoded by the KCNH7 gene. ERG1 is highly expressed in cardiomyocytes, and its mutations have been linked to arrhythmias, such as the long QT syndrome.1 Research on ERG2 is limited, while ERG3 is primarily expressed in neurons. The connection between the KCNH7 gene and neurological disorders remains to be elucidated.

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