KCNH2 variants in a family with epilepsy and Long QT syndrome: a case report and literature review.
Yu ZhouNanya HaoJosemir W SanderXu LinWeixi XiongDong ZhouPublished in: Epileptic disorders : international epilepsy journal with videotape (2023)
We report a KCNH2 Arg 744* pathogenic variant in a family with both epilepsy and LQTS. This study expands the clinical phenotype of the Arg 744* KCNH2 pathogenic variant. In the context of channelopathies, because of the genetic susceptibility of the brain and the heart, the risk of comorbidity should be considered. This also indicates the importance of precise antiepileptic drug (AED) management and regular ECG monitoring for patients with channelopathies.