Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP
Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael S. Hildebrand, Douglas Ewan Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Christopher A. Reid
The paper identifies loss-of-function KCNH2 variants as enriched in SUDEP patients compared to epilepsy controls, suggesting a genetic biomarker for SUDEP risk.
bioRxiv · Mar 19, 2021 · PreprintNeuroscience