Optimisation of our testing panel: research shows firm connection between SCN1A and SMEI manifestation.



The contribution of SCN1A mutations to the manifestation of SMEI has been firmly established. It has further been shown that approximately 15% of all SMEI cases caused by SCN1A mutations represents large deletions. To optimise our testing panel Amplexa now launches a MLPA based analyses for major deletions and duplications of SCN1A.