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Establishment of SCN2A testing, related to benign familial infantile convulsions

 

Tests for mutations of the SCN2A gene have been established. Mutations in this gene results in an epileptic phenotype with benign familial neonatal-infantile convulsions. 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.