Establishment of SCN1B testing, related to GEFS+1 and Brugada syndrome



Tests for mutations of the SCN1B gene have been established. Mutations in this gene results in an epileptic phenotype with generalized epilepsia with febrile seizures GEFS+1. SCN1B has additionally been shown to be the cause of Brugada syndrome 5. 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.