Journal article

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Betuel Uysal, Niklas Schwarz, Maria A Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Heron, Caroline Nava, Stephanie Valence, Julien Buratti, Christina R Fagerberg, Kristina P Soerensen, Maria Kibaek Show all

American Journal of Human Genetics | CELL PRESS | Published : 2018


Awarded by National Institute for Health Research England (NIHR) for the NIHR BioResource

Awarded by DFG Research Unit

Awarded by NIH

Awarded by Health Innovation Challenge Fund

Awarded by Wellcome Trust Sanger Institute


Funding Acknowledgements

We thank the participants and families for participating in our study. R.J.L. is supported by a Siegmund-Kiener stipend for medical doctoral students at the Hertie Institute of Clinical Brain Research. C.T.M. is supported by the Lennox-Gastaut Syndrome Foundation (LGSF). M.A.G. holds fellowships from Alberta Innovates and CIHR. M.A. Corbett is supported by The Channel 7 Children's Research Foundation and the Cerebral Palsy Alliance Research Foundation. R.W. is supported by The Brian and Caris Chan Family Foundation. J.C.J. is supported by a Rutherford Discovery Fellowship from the New Zealand Government, administered by the Royal Society of New Zealand. Bioinformatic analysis was supported by the New Zealand eScience Infrastructure. L.G.S. is supported by the Health Research Council of New Zealand and Cure Kids New Zealand. G.W.Z. is supported by the Canadian Institutes of Health Research (CIHR) and is a Canada Research Chair. A.S.-J., K.J.C., and F.L.R. were supported by Cambridge BRC and the National Institute for Health Research England (NIHR) for the NIHR BioResource (grant RG65966). I.E.S. is supported by the National Health and Medical Research Council of Australia, National Institutes of Health, Australian Research Council, Health Research Council of New Zealand, CURE, and March of Dimes. I. Helbig, U.B.S.H., and H.L. are supported by the DFG Research Unit FOR 2715 (grants He5415/7-1, He8155/1-1, Le1030/16-1). H.C.M. is supported by the NIH (NINDS NS069605). We are thankful to the Deciphering Developmental Disorders (DDD) study. The DDD study (Cambridge South REC approval 10/H0305/83 and the Republic of Ireland REC GEN/284/12) presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). The views expressed in this publication are those of the authors and not necessarily those of theWellcome Trust or the Department of Health.