Publications by authors named "F Pisani"
Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.
Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.
Article Synopsis
- - Pathogenic variants in the SETD5 gene are linked to a neurodevelopmental disorder presenting intellectual disability, autism, and facial dysmorphisms, with some symptoms not appearing in every individual (incomplete penetrance).
- - A study of 28 patients revealed various neurological symptoms, including low muscle tone (hypotonia), movement disorders, gait issues, and epilepsy in 14% of cases; cognitive impairments ranged from mild to severe in most participants.
- - The research expands on existing literature to propose a correlation between specific gene variations (genotype) and the observed symptoms (phenotype) in SETD5-related disorders.
We report on a passive Q-switching laser operation of an in-band pumped Dy-doped zirconium fluoride fiber using a commercially available semiconductor saturable absorber mirror (SESAM). Stable Q-switching pulse trains with minimum pulse duration of 460 ns, highest repetition frequency of 206 kHz, and pulse energy up to 1.7 µJ are demonstrated.
View Article and Find Full Text PDF