PITFALLS IN DIAGNOSTIC SEQUENCING: THE STORY OF SCN1A MUTATIONS BEING MISSED IN DRAVET SYNDROME

A Suls, J Jaehn, GL Carvill, T Djemie, S Weckhuysen, S von Spiczak, A-E Lehesjoki, T Linnankivi, A-K Anttonen, JM Serratosa, R Guerrero-Lopez, BG Giraldez, J Lemke, RS Moller, H Hjalgrim, J Mc Mahon, E Hamalainen, P Gormley, A Palotie, HC Mefford Show all