Journal article

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Charles A Steward, Jolien Roovers, Marie-Marthe Suner, Jose M Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S Rogers Show all


University of Melbourne Researchers


Awarded by National Human Genome Research Institute (NHGRI)

Awarded by Wellcome Trust

Awarded by European Regional Development Fund

Awarded by BOF-University of Antwerp

Awarded by FWO

Funding Acknowledgements

We thank the following: all patients, their families and carers who participated in this study, as well as the teams who were involved in recruiting patients and gathering samples and data at the respective study sites; Dr. Gautam Ambegaonkar, Dr. Rajiv Chaudhary, Ms Helen Dolling, Ms Margo Elsworth, Dr. Jill Gordon, Dr. Alasdair Parker, Dr. Elizabeth Radford, Ms Kuldeep Stohr (NHS England) for clinical support and advice; Dr. Andrew Jaffe (Lieber Institute for Brain Development, USA) for advice with utilising the 6 different life-stage transcriptomic datasets used in this study; Dr. Matthew Hurles (Wellcome Sanger Institute, UK) for initial discussions regarding this study. We also thank Imogen and Jasper Steward, both of whom have rare neurological disorders and have been instrumental in driving this study. This work was supported in part by the National Human Genome Research Institute (NHGRI) (2U41HG007234), Wellcome Trust (WT108749/Z/15/Z) and the European Molecular Biology Laboratory. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The work was partly undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres funding scheme. S.M.S. is partly supported by the Epilepsy Society. J.R. is funded by the Agency for Innovation by Science and Technology, IWT. H.S. is a PhD fellow of the Fund for Scientific Research Flanders (FWO, 1125416N). G.C. was funded by Science Foundation Ireland (SFI) and the European Regional Development Fund, grant number 16/RC/3948. S.W. is partly supported by the BOF-University of Antwerp (FFB180053) and FWO (1861419N).