Journal article

The phenotypic spectrum of SCN8A encephalopathy

Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna A Jaehn, Birgit Jepsen, Deepak Gill, Miriam Doecker, Saskia Biskup, Jacinta M McMahon, Bobby Koeleman Show all

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2015

University of Melbourne Researchers


Awarded by NIH (National Institute of Neurological Disorders and Stroke)

Awarded by Lundbeck Foundation

Awarded by Health Innovation Challenge Fund

Awarded by Wellcome Trust Sanger Institute

Awarded by Italian Minister of Health

Funding Acknowledgements

The research is supported by Wilhelm Johannsen Centre for Functional Genome Research, ICMM, University of Copenhagen, NIH (National Institute of Neurological Disorders and Stroke 1R01NS069605) to H.C.M., the American Epilepsy Society and the Lennox and Lombroso Fund to G.L.C., National Health and Medical Research Foundation to S.F.B. and I.E.S., the Lundbeck Foundation (2012-6206) to N.T., Institut fur Humangenetik, Universitat Wurzburg, Patient P was part of the DDD Study, which presents independent research commissioned by the Health Innovation Challenge Fund (grant HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant WT098051). The research team acknowledges the support of the National Institute for Health, funds from the Italian Minister of Health, RF 2009-1525669; special thanks to Eurocores program EuroEPINOMICS of the European Science Foundation (P.D.J.).