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Testing for SCN1A gene is established

 

Tests for mutations of the SCN1A gene have been established. Mutations in this gene results in an epileptic phenotype ranging from GEFS+ to SMEI (Dravets syndrome). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.