Journal article

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Candace T Myers, Nicholas Stong, Emily I Mountier, Katherine L Helbig, Saskia Freytag, Joseph E Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N Shinde, Arezoo Rezazadeh, Brigid M Regan, Karen L Oliver, Michelle E Ernst, Natalie C Lippa, Maureen S Mulhern, Zhong Ren, Annapurna Poduri, Danielle M Andrade Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2017


Awarded by NIH National Institute of Neurological Disorders and Stroke

Awarded by Australian National Health and Medical Research Council

Funding Acknowledgements

We would like to thank all individuals and their families. We also thank individuals and groups who contributed exome sequence samples for analysis, including the Epi4K Consortium, the Epilepsy Phenome Genome Project (EPGP), the Epilepsy Genetics Initiative (EGI) - a signature program of Citizens United for Research in Epilepsy (CURE), EuroEPINOMICS-RES Consortium, and Dr. Vandana Shashi and Dr. Ann Bergin. C.T.M. is supported by postdoctoral fellowships from the Lennox-Gaustaut Syndrome Foundation and the American Epilepsy Society. This study was supported by the NIH National Institute of Neurological Disorders and Stroke (RO1 NS069605 to H.C.M.; U01NS077303; U01NS053998), the Health Research Council of New Zealand, Cure Kids New Zealand, the Australian National Health and Medical Research Council (APP1054618, APP1102971); Victorian State Government Operational Infrastructure Support, Australian Government NHMRC IRIISS funding, as well as additional sources that are listed in the Supplemental Data. K.L.H. and D.N.S. are full-time employees of Ambry Genetics, Inc. Exome sequencing is one of Ambry's commercially available tests. D.B.G. is a founder and holds equity in Pairnomix and Praxis, and has research funding from Janssen, Gilead, Biogen, AstraZeneca, and UCB. I.E.S. received support from and/or has served as a paid consultant for UCB, Eisai, Athena Diagnostics, GlaxoSmithKline, Nutricia, Transgenomics, and Biocodex.