PCDH19 mutations in female patients from Southern Italy. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• PCDH19 mutations in female patients from Southern Italy. (Articolo in rivista) (literal)

Anno

• 2015-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1016/j.seizure.2014.08.010 (literal)

Alternative label

• Monica Gagliardi a,b, Grazia Annesi a, Michela Sesta c, Patrizia Tarantino a, Pasquale Conti c, Angelo Labate a,b, Gabriella Di Rosa d, Aldo Quattrone a,b, Antonio Gambardella a,b (2015)
  PCDH19 mutations in female patients from Southern Italy.
  in Seizure (Online)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Monica Gagliardi a,b, Grazia Annesi a, Michela Sesta c, Patrizia Tarantino a, Pasquale Conti c, Angelo Labate a,b, Gabriella Di Rosa d, Aldo Quattrone a,b, Antonio Gambardella a,b (literal)

Pagina inizio

• 120 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni

• Pubblicato on-line: 30 Agosto 2014 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 24 (literal)

Rivista

• Seizure (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 118 (literal)

Note

• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• a Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy b Institute of Neurology, Department of Medical and AurgivSciences, University Magna Graecia, Catanzaro, Italy c Department of Neurosciences, Psychiatry and Anaesthesiology, Department of Neurology, Pediatric Hospital, Bari, Italy d Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy (literal)

Titolo

• PCDH19 mutations in female patients from Southern Italy. (literal)

Abstract

• 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. (literal)

Prodotto di

• Institute of molecular bioimaging and physiology (IBFM) (Istituto)
• Neuroimaging clinico dei disordini neurodegenerativi del movimento (ME.P02.028.001) (Modulo)

Autore CNR

• PATRIZIA TARANTINO (Persona)
• GRAZIA ANNESI (Unità di personale interno)

Insieme di parole chiave

• Keywords of "PCDH19 mutations in female patients from Southern Italy." (Insieme di parole chiave)

Incoming links:

Autore CNR di

• http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleEsterno/ID25089
• GRAZIA ANNESI (Unità di personale interno)
• PATRIZIA TARANTINO (Persona)

Prodotto

• Institute of molecular bioimaging and physiology (IBFM) (Istituto)
• Neuroimaging clinico dei disordini neurodegenerativi del movimento (ME.P02.028.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Seizure (Rivista)

Insieme di parole chiave di

• Keywords of "PCDH19 mutations in female patients from Southern Italy." (Insieme di parole chiave)