
Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children
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.