Pitfalls in genetic testing: the story of missed SCN1A mutations

ConclusionWe illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

We explored to what extent inconsistencies between Sanger sequencing and next‐generation sequencing affect the molecular diagnosis of patients. Hereto we focused on the analysis of mutations in SCN1A, the major gene implicated in Dravet syndrome and epilepsy. We illustrate the pitfalls of genetic screening technologies and most importantly provide evidence that SCN1A mutations are an even more frequent cause of Dravet syndrome than already anticipated.

Source: Molecular Genetics & Genomic Medicine - February 29, 2016 Category: Genetics & Stem Cells Authors: Tania Djémié, Sarah Weckhuysen, Sarah Spiczak, Gemma L. Carvill, Johanna Jaehn, Anna‐Kaisa Anttonen, Eva Brilstra, Hande S. Caglayan, Carolien G. Kovel, Christel Depienne, Eija Gaily, Elena Gennaro, Beatriz G. Giraldez, Padhraig Gormley, Rosa Guerrero Tags: Original Article Source Type: research