A5013585220- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Fetal and Pediatric Neurological Disorders
- Muscle Physiology and Disorders
- Autism Spectrum Disorder Research
- Genomics and Chromatin Dynamics
- RNA regulation and disease
- Ocular Diseases and Behçet’s Syndrome
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Bacterial Infections and Vaccines
- Hemoglobinopathies and Related Disorders
- Glycogen Storage Diseases and Myoclonus
- Sarcoidosis and Beryllium Toxicity Research
University of Siena
2016-2025
Azienda Ospedaliera Universitaria Senese
2002-2025
University of Verona
1997-2019
University of Pisa
2019
Meyer Children's Hospital
2019
Fondazione Stella Maris
2019
Meyer Children's Hospital
2019
In-Q-Tel
2014
Fundación Ciencias Exactas y Naturales
2014
Azienda Ospedaliera Universitaria Integrata Verona
2011
Background and objectives: few studies have reported the drug retention rate (DRR) of biologic drugs in juvenile idiopathic arthritis (JIA), none them has specifically investigated DRR interleukin (IL)-1 inhibitors on systemic JIA (sJIA). This study aims to describe IL-1 evaluate predictive factors survival based data from a real-world setting concerning sJIA. Methods: Medical records sJIA patients treated with anakinra (ANA) canakinumab (CAN) were retrospectively analyzed 15 Italian...
Rett syndrome (RTT) is a severe neurodevelopmental disorder almost exclusively affecting females and characterized by wide spectrum of clinical manifestations. Most patients affected classic RTT smaller percentage with the milder form 'preserved speech variant' have either point mutations or deletions/duplications in MECP2 gene. Recently, CDKL5 gene, coding for putative kinase, been found female phenotype overlapping that RTT. Here, we report two early seizure variant RTT, bearing novel...
Summary: Purpose : To evaluate how diagnostic criteria influence remission rates for patients with childhood absence epilepsy (CAE) and to assess clinical EEG parameters as predictors of outcome. Methods One hundred nineteen were diagnosed CAE, according International League Against Epilepsy (ILAE) classification criteria. They subsequently evaluated stricter Sixty‐two subjects fulfilled these group 2; 57 did not constituted 1. Diagnostic that prevented 1 from entering 2, variables such sex,...
Summary Purpose: Mutations of the protocadherin19 gene ( PCDH19 ) cause a female‐related epilepsy variable severity, with or without mental retardation and autistic features. Despite increasing number patients mutations reported, phenotype associated is still unclear. We analyzed seizure semiology through ictal video–electroencephalography (EEG) recordings in large series patients. Methods: studied 35 gene–related clinical history video‐EEG obtained 34 them. Key Findings: Clusters focal...
This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively then analyzed according to age groups (disease onset before or after 16 years) genotype (high penetrance (HP) low (LP) TNFRSF1A gene variants). Pediatric- adult-onset reported, respectively, 44 36 patients; HP LP variants found, 32 cases. A...
Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T 2 -weighted signal known unidentified bright objects, and mental retardation or learning disabilities. The prevalence seizures has been reported to range from 3.8 6%. In present study, we evaluated prevalence, type, etiology epilepsy in a neurofibromatosis population. A retrospective analysis 198 patients affected was...
Background. Sarcoidosis is a multisystemic granulomatous disease with an unpredictable clinical course characterized by accumulation of activated proliferating T lymphocytes and mononuclear phagocytes in affected organs. Aims methods. The aims this study were to describe the clinical, radiological immunological features population sarcoidosis patients followed at Regional Centre Siena analyse chitotriosidase sIL‐2R concentrations serum these order understand their potential as markers....
Mutations identified in SCN1A , the gene encoding neuronal sodium channel α1 subunit, have been linked with a disorder called generalized epilepsy febrile seizures plus (GEFS+).1 GEFS+ can also be to mutations SCN2A, SCN1B, and GABRG2 genes.2 Inherited mutations, commonly missense, account for 5% 15% of GEFS+.1 Sporadic missense reported.2 ### Case report. A 12-year-old-female patient was third child healthy unrelated parents. Psychomotor development language acquisition were normal. At...
Abstract The present report describes a 7‐year‐old girl with de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array‐CGH. region is gene poor and contains only five genes two them, FOXG1B PRKD1 being deleted also in previously reported case very similar phenotype. Both patients prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip large ears clinical course like Rett syndrome, including normal perinatal period, postnatal...
<i>Background:</i> Human chitotriosidase is a chitinase selectively expressed by activated macrophages. An increase in activity was previously described us the serum and bronchoalveolar lavage of sarcoidosis patients. <i>Objective:</i> The aim present study to analyze larger number patients verify reported with respect controls compare levels tuberculosis, two granulomatous disorders different etiology. <i>Methods:</i> Chitotriosidase measured 96 patients,...
Summary Sotos syndrome (SS) is an overgrowth characterized by typical facial appearance, learning disability, and macrocephaly as cardinal diagnostic features. Febrile (FS) afebrile seizures are reported in 9–50% of cases. There no evidence that patients with SS FS later develop epilepsy, studies have investigated the electroclinical features long‐term outcome epileptic patients. The authors report a series 19 and/or epilepsy during childhood follow‐up. More than half evolved to epilepsy....