Now testing for GABRG2, related to GEFS+ and SMEI phenotypes


Tests for mutations of the GABRG2 gene have been established. Mutations in this gene results in an epileptic phenotype with generalized epilepsia with febrile seizures GEFS+1 and Severe myoclonic epilepsy in infancy (SMEI). 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.