A5072576194- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Williams Syndrome Research
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- EEG and Brain-Computer Interfaces
- Infectious Encephalopathies and Encephalitis
- Music Therapy and Health
- Autoimmune Neurological Disorders and Treatments
- Neonatal and fetal brain pathology
- Parathyroid Disorders and Treatments
- Regulation of Appetite and Obesity
- Restless Legs Syndrome Research
- Obsessive-Compulsive Spectrum Disorders
- Spinal Dysraphism and Malformations
- Cardiovascular Disease and Adiposity
- Neurological and metabolic disorders
- Bone health and treatments
- Adenosine and Purinergic Signaling
- Cardiac electrophysiology and arrhythmias
- BRCA gene mutations in cancer
Royal Aberdeen Children's Hospital
2019-2024
University of Aberdeen
2024
Fatebenefratelli Hospital
2023
Azienda di Rilievo Nazionale ed Alta Specializzazione
2019
Azienda Sanitaria Ospedaliera S.Croce e Carle Cuneo
2017-2018
Bambino Gesù Children's Hospital
2012-2016
Istituti di Ricovero e Cura a Carattere Scientifico
2012-2016
Boston Children's Hospital
2013-2015
Ospedale Antonio Cardarelli
2013
ASM Terni (Italy)
2012
Thyroid fine-needle aspiration (FNA) is a reliable and cost-effective diagnostic tool for establishing the nature of thyroid nodules, although up to 30% FNAs are still classified as "indeterminate." Molecular testing could improve preoperative diagnosis, thereby reducing unnecessary surgery. In this multicenter prospective study authors investigated, using 7-gene assay, distribution impact BRAF, RAS, RET/PTC, PAX8/PPARg, most frequent genomic alterations occurring during oncogenesis.In...
Abstract: Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy with yet undefined etiology, affecting healthy children. It characterized by acute manifestation of recurrent seizures or refractory status epilepticus preceded febrile illness, but without evidence infectious encephalitis. To date, the absence specific biomarkers poses significant diagnostic challenge; nonetheless, early diagnosis very important for optimal management. FIRES mostly...
Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents with subtle relatively non-specific symptoms, mimicking those observed more common paediatric followed rapid psychomotor deterioration drug-resistant epilepsy. A prompt diagnosis essential to adopt...
ABSTRACT Berardinelli‐Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, acanthosis nigricans. Most reported mutations are associated mild, non‐progressive neurological impairment. We describe the clinical EEG data patient progressive myoclonus epilepsy (PME), CGL2, impairment, carrying...
Abstract Aim To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort patients with KBG syndrome epilepsy. Method Clinical history, age at epilepsy onset, seizure types, EEG findings, duration epilepsy, response to therapies were retrospectively reviewed in 11 (three females, eight males) syndrome. Results All detected genetic mutations pathogenic affected C‐terminal region exon 9 ANKRD11. One patient had 16q24.3 microdeletion including ANKRD11 gene....
Abstract Peri‐ictal water drinking (PIWD) has been reported as the action of during or within two minutes an electroclinical seizure. It is considered a peri‐ictal vegetative symptom, evident both childhood and adulthood epilepsy. The aim this paper was to describe clinical electroencephalographic features new adult subjects suffering from symptomatic temporal lobe epilepsy with episodes PIWD recorded by VIDEO‐EEG review literature data in order better define peculiar event seizures, rare...
Summary Objective To describe the clinical, neuropsychological, and psychopathologic features of a cohort children with new diagnosis symptomatic or presumed focal epilepsy at time recruitment through first month. The selected population will be followed for 2–5 years after enrollment to investigate course identify early predictors drug resistance. Methods In this observational, multicenter, nationwide study, (age 1 month–12.9 years) were consecutively enrolled in 15 Italian tertiary...
Abstract Background The phenotypical consequence of the heterozygous chromosome 7q11.23 interstitial microdeletion is Williams–Beuren syndrome, a very well‐known genetic multi‐systemic disorder. Much less known about reverse condition, microduplication region. first molecular cytogenetic description was published in 2005, and only after several years were reported patients numerous enough to attempt common phenotype. Method By using broad multidisciplinary approach, we investigated 12 with...