Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis

Z Ye; S Lin; X Zhao; M Wallis; X Gao; L Sun; J Wu; J Duan; Y Yao; L Li; L Chen; D Cao; Z Hu; VW Zhang; SF Berkovic; IE Scheffer; J Liao; MS Hildebrand

Journal article

Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis

Z Ye, S Lin, X Zhao, M Wallis, X Gao, L Sun, J Wu, J Duan, Y Yao, L Li, L Chen, D Cao, Z Hu, VW Zhang, SF Berkovic, IE Scheffer, J Liao, MS Hildebrand

Pediatric Neurology | Published : 2024

DOI: 10.1016/j.pediatrneurol.2023.10.008

University of Melbourne Researchers

Sam Berkovic Author

Ingrid Scheffer Author

Michael Hildebrand Author

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Grants

Awarded by Epilepsy Foundation of Victoria

Funding Acknowledgements

We thank the patients and their families for participating in our research program. This study was supported by a Sanming Project of Medicine in Shenzhen (SZSM201812005), an Australia National Health and Medical Research Council (NHMRC) Program Grant (1091593) to I.E.S. and S.F.B., a Project Grant (1129054) to S.F.B., a Project Grant (1079058) to M.S.H., a Practitioner Fellowship (1006110) and Senior Investigator Grant (1172897) to I.E.S., and a R.D Wright Career Development Fellowship (1063799) to M.S.H. This study was also supported an Australian Epilepsy Research Fund Scheme Grant from the Epilepsy Foundation to M.S.H.