Gabriella Di Rosa

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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(More)
Aim of this study is to show the potential of probabilistic tractographic techniques, based on the Constrained Spherical Deconvolution (CSD) algorithms, in recognizing white matter fiber bundle anomalies in patients with complex cerebral malformations, such as cerebellar agenesis. The morphological and tractographic study of a 17-year-old male patient(More)
Clinical and electroencephalographic phenotypes of the epilepsy in patients with inborn errors of metabolism are increasingly reported in the literature. The attempt to define several, disease-specific syndromes is a crucial point to allow early diagnosis and, when it is available, to perform a mirate treatment of the underlying disorder. Either dietary(More)
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