Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Gemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, J Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L Schneider, Georgie Hollingsworth, Dylan H Holder, Brigid M Regan, James Lawlor, Lieven Lagae, Berten Ceulemans, E Martina Bebin, John Nguyen, Gregory S Barsh, Sarah Weckhuysen, Miriam Meisler, Samuel E Berkovic Show all
The American Journal of Human Genetics | CELL PRESS | Published : 2018
Awarded by NIH
Awarded by National Human Genome Research Institute
Awarded by National Cancer Institute
Awarded by NIH (NINDS)
We thank the affected individuals and their families for participating in our research programs. G.L.C. is supported by the NIH (NINDS R00 NS089858) and the Junior Investigator Kevin's Fellows Award sponsored by the American Epilepsy Society and the Epilepsy Foundation. H.C.M. is supported by the NIH (NINDS R01 NS069605). I.E.S. and S.F.B. are supported by funding from the National Health and Medical Research Council of Australia. Work by authors at HudsonAlpha was supported by grants from the National Human Genome Research Institute (UM1HG007301) and National Cancer Institute (R01CA197139).