De novo CLPTM1 variants with reduced GABA A R current response in patients with epilepsy.

Na-Na LiuJinliang LiKai GaoRiley E PerszykJing ZhangJingmin WangYe WuAndrew JenkinsHongjie YuanStephen F TraynelisYuwu Jiang

Published in: Epilepsia (2023)

R currents and charge transfer, which should promote excitation and hypersynchronous activity. This study may provide insights into the molecular mechanisms of the CLPTM1 variants underlying the patients' phenotypes, as well as for exploring potential therapeutic target for epilepsy.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
patient reported outcomes
risk assessment
climate change