Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Gemma L Carvill, Sinead B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann ME Bye, Andrew Bleasel, Katherine B Howell, Sara Kivity, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster Show all
Nature Genetics | NATURE PUBLISHING GROUP | Published : 2013
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Awarded by US National Institutes of Health (NIH; National Institute of Neurological Disorders and Stroke (NINDS))
Awarded by National Health and Medical Research Council of Australia
We thank the individuals with epileptic encephalopathies and their families for participating in our research. H. C. M. is supported by a grant from the US National Institutes of Health (NIH; National Institute of Neurological Disorders and Stroke (NINDS) 1R01NS069605) and is a recipient of a Burroughs Wellcome Fund Career Award for Medical Scientists. This work was supported by the National Health and Medical Research Council of Australia (program grant 628952 to S. F. B. and I. E. S., practitioner fellowship 1006110 to I. E. S.) and a Health Research Council of New Zealand project grant to L.G.S.