title: PCDH19 mutations in female patients from Southern Italy.
abstract: OBJECTIVE
  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.
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and AurgivSciences, University Magna Graecia, Catanzaro, Italy. Electronic address: monicg_2002@yahoo.it.
authors.forename: Monica
authors.initials: M
authors.lastname: Gagliardi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, Department of Neurology, Pediatric Hospital, Bari, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Sesta
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, Department of Neurology, Pediatric Hospital, Bari, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Conti
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and AurgivSciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Labate
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Di Rosa
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and AurgivSciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and AurgivSciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
mesh_terms: D015820:Cadherins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D001523:Mental Disorders / Q000150:complications / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D000091363:Protocadherins
chemical_list: D015820:Cadherins; C438605:PCDH19 protein, human; D000091363:Protocadherins
keywords: Dravet syndrome; Epilepsy; PCDH19