Mutazione di SCN1A in un caso di sindrome di Lennox-Gastaut con pregressa sindrome di West ad eziologia sconosciuta

We report a family with a novel SCN1A mutation segregating in the proband and inherited from the paternal line. The proband had West syndrome (WS) in infancy, and later developed Lennox Gastaut syndrome (LGS). In the paternal line, there is only one affected member who had febrile seizures Epileptic phenotype was also present in the maternal line. We thus hypothesize a complex system of genetic expression with possible involvement of other genes. SCN1A mutations have been occasionally associated with LGS, but this is the first report of an association with WS.