Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death
Abstract Background Long QT Syndrome Type-2 (LQT2) is due to loss-of-function KCNH2 variants. KCNH2 encodes Kv11.1 that forms a delayed-rectifier potassium channel in the brain and heart. LQT2 is associated with arrhythmias, seizures, sudden cardiac death, and sudden unexpected death in epilepsy (SU...
Saved in:
| Main Authors: | Veronica Singh, Kyle T. Wagner, Laura G. Williams, Justin M. Ryan, Katherine R. Keller, Jonathan D. Mohnkern, Robert S. Gardner, Louis T. Dang, Julie M. Ziobro, Richard J. H. Wojcikiewicz, Nathan R. Tucker, David S. Auerbach |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-04-01
|
| Series: | Journal of Translational Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12967-025-06382-w |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting “motor seizures”: a case report and literature review
by: Mei Jin, et al.
Published: (2025-03-01) -
Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome type 2
by: Dasom Mun, et al.
Published: (2025-04-01) -
Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association
by: Francesco Ventura, et al.
Published: (2024-11-01) -
Prolonged QT Syndrome Presenting as Epilepsy
by: J Gordon Millichap
Published: (1994-09-01) -
Congenital long-QT syndrome in type 1 diabetes: a unique association
by: Erdal Kurnaz, et al.
Published: (2019-10-01)