A5012755074- Tuberous Sclerosis Complex Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- RNA regulation and disease
- Ion channel regulation and function
- Polyomavirus and related diseases
- Family and Disability Support Research
- Ion Transport and Channel Regulation
- Chromatin Remodeling and Cancer
- Cardiac electrophysiology and arrhythmias
- Neuroscience and Neuropharmacology Research
- Long-Term Effects of COVID-19
- Adolescent and Pediatric Healthcare
- Genetic and Kidney Cyst Diseases
- Histiocytic Disorders and Treatments
- Tumors and Oncological Cases
- Childhood Cancer Survivors' Quality of Life
Fondazione IRCCS Istituto Neurologico Carlo Besta
2020-2023
Ospedale San Paolo
2020-2021
Azienda Socio Sanitaria Territoriale Santi Paolo e Carlo
2021
University of Milan
2015-2020
Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting 61 patients. The aims this study were: 1) assess prevalence ASD a TSC population; 2) describe severity ASD; 3) identify potential risk factors associated development We selected 42 individuals over age 4 years definite diagnosis followed at clinic Northern...
Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 subunits. In vitro, channels carrying most KCNC1 pathogenic display loss-of-function features. Here, we describe a child affected DEE fever-triggered seizures, novel de novo heterozygous missense variant (c.1273G>A; V425M). Patch-clamp recordings transiently transfected CHO...
De novo variants in KCNQ2 encoding for Kv7.2 voltage-dependent neuronal potassium (K+) channel subunits are associated with developmental epileptic encephalopathy (DEE). We herein describe the clinical and electroencephalographic (EEG) features of a child early-onset DEE caused by novel p.G310S variant. In vitro experiments demonstrated that mutation induces loss-of-function effects on currents produced channels incorporating mutant subunits; these were counteracted selective Kv7 opener...
Individuals with comorbidities are at higher risk of coronavirus disease 2019 (COVID-19) and worse outcome, but little information has been available about patients genetic diseases COVID-19. This study aims evaluating the presence outcome COVID-19 in a cohort Italian tuberous sclerosis complex (TSC) and/or lymphangioleiomyomatosis (LAM), reviewing possible effects mTOR inhibitors on SARS-CoV-2 infection. We included 102 unselected individuals diagnosis TSC LAM assessed between January 1,...
Little is known about the evolution of epilepsy in individuals with tuberous sclerosis complex (TSC) adulthood. This study aims at describing characteristics adult TSC patients attending a single multidisciplinary clinic.We collected data (age onset, seizure types, history infantile spasms (IS), diagnosis and outcome), genetic neuroradiological findings, cognitive outcome psychiatric comorbidities.Out 257 adults TSC, 183 (71.2%) had epilepsy: 121 (67.2%) were drug-resistant; 59 (32.8%)...