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.

PCDH19 mutations in female patients from Southern Italy.

;DI ROSA, GABRIELLA;
2015

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11570/2831368
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