Loss-of-function variants in Kv11.1 cardiac channels as a biomarker for SUDEP,Annals of Clinical and Translational Neurology

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Loss-of-function variants in Kv11.1 cardiac channels as a biomarker for SUDEP
Annals of Clinical and Translational Neurology ( IF 4.4 ) Pub Date : 2021-05-18 , DOI: 10.1002/acn3.51381
Ming S Soh ₁ , Richard D Bagnall _{2,

3} , Mark F Bennett _{4,

5,

6} , Lauren E Bleakley ₁ , Erlina S Mohamed Syazwan ₁ , A Marie Phillips _{1,

7} , Mathew D F Chiam ₁ , Chaseley E McKenzie ₁ , Michael Hildebrand _{6,

8} , Douglas Crompton _{6,

9} , Melanie Bahlo _{4,

5} , Christopher Semsarian _{2,

3} , Ingrid E Scheffer _{1,

6,

8,

10} , Samuel F Berkovic ₆ , Christopher A Reid _{1,

6}

Affiliation

The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, Australia.
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.
Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.
Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
School of Biosciences, University of Melbourne, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.
Neurology Department, Northern Health, Epping, VIC, Australia.
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.

To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss-of-function KCNH2 variants as predictive biomarkers of SUDEP risk.

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