PCDH19 mutations in female patients from Southern Italy

PURPOSE Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. We wished to explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy, from Southern Italy. METHODS Direct sequencing of PCDH19 gene was conducted in 31 unrelated female patients with early onset (<1 year of age) epilepsy and a wide spectrum of phenotypes including febrile seizures, focal and generalized forms, with either sporadic or familial distribution. RESULTS We identified two de novo heterozygous novel mutations of PCDH19 gene (p.Arg550Pro, Ile508ProfsX59) in two of 31 unrelated female patients. We also identified a novel silent mutation p.Ser856=. CONCLUSIONS The present findings confirm that PCDH19 is a major causative gene for infantile onset familial or sporadic epilepsy in female patients with or without mental retardation.