A5082903008- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Anesthesia and Sedative Agents
- Vascular Malformations Diagnosis and Treatment
- Digestive system and related health
- Pharmaceutical studies and practices
- Genomics and Rare Diseases
- Ion channel regulation and function
- Botulinum Toxin and Related Neurological Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Cerebrospinal fluid and hydrocephalus
- Neurosurgical Procedures and Complications
- Transcranial Magnetic Stimulation Studies
- Systemic Lupus Erythematosus Research
- Neurological disorders and treatments
- Autism Spectrum Disorder Research
- Vitamin C and Antioxidants Research
- Hemoglobinopathies and Related Disorders
- interferon and immune responses
- Congenital Ear and Nasal Anomalies
- Telomeres, Telomerase, and Senescence
Fondazione IRCCS Istituto Neurologico Carlo Besta
2010-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2024
The Neurological Institute
2011
University of Messina
1997
IFIH1 gain-of-function has been reported as a cause of type I interferonopathy encompassing spectrum autoinflammatory phenotypes including Aicardi–Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through European North American collaboration, we set out to describe the molecular, clinical interferon status cohort individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 from 51 families segregating total 27 likely Ten adult individuals, 13.5% all...
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, PDCD10/CCM3. Aim this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% hereditary...
Abstract Among creatine deficiency syndromes, an X‐linked condition related to a defective transport into the central nervous system has been described recently. Hallmarks of disease are absence signal at brain spectroscopy, increased levels in blood and urine, ineffectiveness oral supplementation, mutation SLC6A8 (Online Mendelian Inheritance Man [OMIM] 300036) transporter gene. We report on patient whom novel (1221‐1223delTTC) was identified.
Mutations in the thyroid hormone transporter SLC16A2 (MCT8) cause Allan–Herndon–Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and peripheral thyrotoxicosis. Here, we report three newly identified AHDS patients. Previously documented mutations were probands 1 (p.R271H) 2 (p.G564R), resulting a clinical phenotype. A novel mutation (p.G564E) was proband 3, affecting same Gly564 residue, but relatively mild Functional analysis transiently transfected COS-1 JEG-3 cells...
Lombardy was severely hit by the COVID-19 pandemic since February 2020 and Health System underwent rapid reorganization. Outpatient clinics were stopped for non-urgent patients: it became a priority to manage hundreds of fragile neurological patients who suddenly had less reference points. In Italy, before pandemic, Televisits neither recognized nor priced. At Fondazione IRCCS Istituto Neurologico C. Besta, we reorganized outpatient deliver Neuro-telemedicine services, including...
We report a 13-year-old boy who developed severe, refractory dystonia–dyskinesias as an abrupt worsening of previously nonprogressive movement disorder. The movements became continuous, requiring artificial respiration and continuous sedation in the intensive-care unit. Various drugs drug combinations failed to achieve control. child was then treated successfully with bilateral pallidal (GPi) stimulation shown videotape. Four months later without medication, regained autonomous gait audible...
The effects of age and concomitant treatment on plasma lamotrigine (LTG) concentration/dose (C/D) ratios were retrospectively evaluated 482 consecutive routine LTG determinations from 106 chronically-treated patients with epilepsy (40 children adolescents aged younger than 16 years, 66 adults 17 to 62 years). A linear dose/level relationship was observed in individual but not the cumulative analysis, which failed show any correlation between administered dose concentrations. In adult group,...
Fourteen children (6 M, 8 F) suffering from refractory epilepsy received LTG as add-on therapy. was administered twice daily at dosages increasing up to 2 mg/kg/day (for patients taking VPA) or 10 for AEDs that induce hepatic metabolism. The drug withdrawn side effects in 3 cases (rash: two cases, hirsutism: one), because of increased seizure frequency and unchanged one. One patient died acute respiratory failure, after repeated tract infections. A decrease one year treatment with observed 6...
The aim of the study was to assess efficacy In-Dex sedation in comparison oral melatonin and hydroxyzine individuals with Autism Spectrum Disorder (ASD) undergoing EEG recording 15 determine which categories patients exhibit most favorable response sedation.
Investigating copy number variations (CNVs) such as microdeletions or microduplications can significantly contribute to discover the aetiology of neurodevelopmental disorders. 15q11.2 genomic region, including NIPA1 and NIPA2 genes, contains a recurrent but rare CNV, flanked by break points BP1 BP2. Both BP1-BP2 microdeletion microduplication have been associated with intellectual disability (ID), neuropsychiatric/behavioural disturbances mild clinical features, even if incomplete penetrance...
Rearrangements involving the telomeric regions of human chromosomes are often associated with mental retardation. These rearrangements, however, difficult to detect using conventional cytogenetic techniques. We propose use primed in situ (PRINS) labeling as an alternative fluorescence hybridization because it is very fast, reproducible, and simple perform. Sixty-five children unexplained retardation were studied PRINS technology; two them shown have a deletion.
The presence of redundant copy number variants (CNVs) in groups patients with neurological diseases suggests that these could have pathogenic effect. We collected array comparative genomic hybridization (CGH) data about 2,500 affected by neurocognitive disorders and we observed CNVs 2p16.3 locus were as frequent those 15q11.2, being both the most unbalances our cohort patients. Focusing to region, involving NRXN1 coding region been already associated neuropsychiatric disorders, although...
AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 encoded genes GRIA1-4. Increasing evidence support role of pathogenic variants in GRIA1-4 as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred severe myoclonic...