Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

Author:

Ma Alan12,Gurnasinghani Sunita1,Kirk Edwin P.345,McClenaghan Conor67,Singh Gautam K.8,Grange Dorothy K.8,Pandit Chetan9,Zhu Yung4,Roscioli Tony34,Elakis George4,Buckley Michael4,Mehta Bhavesh10,Roberts Philip11,Mervis Jonathan11,Biggin Andrew1213ORCID,Nichols Colin G.67ORCID

Affiliation:

1. Department of Clinical Genetics Children's Hospital at Westmead, Sydney Children's Hospital Network Sydney New South Wales Australia

2. Discipline of Genomic Medicine Sydney Medical School, University of Sydney Sydney New South Wales Australia

3. Centre for Clinical Genetics Sydney Children's Hospital, Sydney Children's Hospital Network Sydney New South Wales Australia

4. NSW Health Pathology East Genomics Laboratory Sydney New South Wales Australia

5. School of Women's and Children's Health, University of NSW Sydney New South Wales Australia

6. Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine St. Louis Missouri

7. Department of Cell Biology and Physiology Washington University School of Medicine St. Louis Missouri

8. Department of Pediatrics Washington University School of Medicine St. Louis Missouri

9. Department of Respiratory and Sleep Medicine The Children's Hospital at Westmead Sydney New South Wales Australia

10. Grace Centre for Newborn Intensive Care The Children's Hospital at Westmead Sydney New South Wales Australia

11. Department of Cardiology The Children's Hospital at Westmead Sydney New South Wales Australia

12. Children's Hospital Westmead Clinical School, University of Sydney New South Wales Australia

13. Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead Sydney New South Wales Australia

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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