Journal article

Pitfalls in genetic testing: the story of missed SCN1A mutations

Tania Djemie, Sarah Weckhuysen, Sarah von Spiczak, Gemma L Carvill, Johanna Jaehn, Anna-Kaisa Anttonen, Eva Brilstra, Hande S Caglayan, Carolien G de Kovel, Christel Depienne, Eija Gaily, Eija Hamalainen, Beatriz G Giraldez, Padhraig Gormley, Rosa Guerrero-Lopez, Renzo Guerrini, Eija Hamalainen, Corinna Hartmann, Laura Hernandez-Hernandez, Helle Hjalgrim Show all

Molecular Genetics & Genomic Medicine | WILEY | Published : 2016

University of Melbourne Researchers


Awarded by International Coordination Action (ICA)

Awarded by EpiPGX (European Union 7th Framework Programme Grant)

Awarded by Eurocores program of the European Science Foundation P.D.J.

Awarded by TUBITAK

Awarded by French program "Investissements d'avenir"

Funding Acknowledgements

This study was funded by the following sources: Assistance Publique des Hopitaux de Paris (AP-HP), Dravet Syndrome UK, the Katy Baggott Foundation, the Epilepsy Society, the International Coordination Action (ICA, grant G0E8614N), and EpiPGX (European Union 7th Framework Programme Grant 279062). This work was partly undertaken at UCLH/UCL, which received a proportion of funding from the UK Department of Health's NIHR Biomedical Research Centres funding scheme. This work was supported by Folkhalsan Research Foundation (A-KA, A-EL). Within the Eurocores program of the European Science Foundation P.D.J. (G.A.136.11.N and FWO/ESF-ECRP) and I.H. (HE5415/3-1) received financial support within the EuroEPINOMICS-RES network. H.C. is granted by the TUBITAK project no 110S518. S.v.S, H.M., U.S. and I.H. received funding from the medical faculty of Kiel University, Germany. T.D. is a PhD fellow of the Institute of Science and Technology (IWT). A.S. was a postdoctoral fellow of the Fund for Scientific Research Flanders (FWO). S.W. is supported by French program "Investissements d'avenir" (ANR-10-IAIHU-06).