A5080029669- EEG and Brain-Computer Interfaces
- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Pharmacological Effects and Toxicity Studies
- Hereditary Neurological Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Migraine and Headache Studies
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Neuroscience and Neural Engineering
- Neuroscience and Neuropharmacology Research
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Advanced MRI Techniques and Applications
- Congenital Heart Disease Studies
- Cerebrovascular and Carotid Artery Diseases
- Cardiac Arrest and Resuscitation
- Cardiovascular Health and Disease Prevention
- Connective tissue disorders research
- RNA regulation and disease
- Visual perception and processing mechanisms
- Cardiovascular Syncope and Autonomic Disorders
- Peripheral Neuropathies and Disorders
- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
Bambino Gesù Children's Hospital
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2025
Agostino Gemelli University Polyclinic
2018
Sapienza University of Rome
2005-2014
Institute of Neurological Sciences
2008
Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated channel), belongs mechano-gated ion channels TRAAK/TREK two-pore-domain (K2P) channels. While K2P are well contribute resting potential...
<i>Background:</i> The rate of early post-stroke epileptic seizures ranges from 2 to 33%. This wide range is likely due differences in study design, patient selection and type neurophysiological monitoring. Electroencephalography (EEG), which not used the routine work-up acute stroke, best neurodiagnostic technique for detecting activity, especially patients with non-convulsive activity. aim this was analyze patterns on EEGs performed within 24 h stroke onset, investigate...
In this pilot study we evaluated electroencephalographic (EEG) mean frequency changes induced by prefrontal transcranial direct current stimulation (tDCS) and investigated whether they depended on tDCS electrode montage. Eight healthy volunteers underwent for 15 min during EEG recording. They completed six sessions, 1 wk apart, testing left right (DC) dipole directions with different montages: four unipolar montages (one a area, the other opposite wrist) two bipolar (both electrodes areas),...
Although antiepileptic drug (AED) monitoring in saliva may have some clinical applicability, it has not yet come into routine use. The correlation between levetiracetam (LEV) and serum concentrations also remains unclear. To confirm LEV assay as a useful, noninvasive alternative to measurement, we investigated the possible concentrations. Samples of blood were collected from 30 patients with epilepsy receiving chronic therapy monotherapy or add-on therapy, assayed serum. Linear regression...
Dominant mutations in ATP1A1, encoding the alpha-1 isoform of Na+ /K+ -ATPase, have been recently reported to cause an axonal intermediate type Charcot-Marie-Tooth disease (ie, CMT2DD) and a syndrome with hypomagnesemia, intractable seizures severe intellectual disability. Here, we describe first case hereditary spastic paraplegia (HSP) caused by novel de novo (p.L337P) variant ATP1A1. We provide evidence for causative role this functional homology modeling studies. This finding expands...
ABSTRACT Non‐ketotic hyperglycaemia is an endocrine emergency characterised by elevated blood glucose levels and high plasma osmolarity. While hypoglycaemia‐induced seizures are usually generalised, hyperglycaemia‐induced often focal secondary to the presence of brain lesions. Moreover, in few studies which language disorders epileptic origin have been reported as a clinical manifestation non‐ketotic hyperglycaemia, were not isolated but followed partial motor seizures. We describe patient...
Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology not yet fully understood. Here we describe the spectrum long fibers involvement in HHH syndrome, attempting correlation between clinical, electrophysiological neuro-radiological data. Nine patients were longitudinally evaluated clinical examination, neurophysiological assessment including motor (MEPs),...
(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without clear genotype-phenotype correlation for both the two causative genes ERCC6 (CS type B) ERCC8 A). We assessed this, presenting series of patients with genetically confirmed CSB. (2) Materials Methods: retrospectively collected demographic, clinical, genetic, neuroimaging, serum neurofilament light-chain (sNFL) data about CSB...
Myelin oligodendrocyte glycoprotein antibody disease (MOGAD) is characterized by multiple phenotypic conditions such as acute disseminated encephalomyelitis, optic neuritis, and myelitis. MOGAD's spectrum expanding, with potential symptoms of increased intracranial pressure that are similar to idiopathic hypertension (IIH). We report a boy new-onset continuous headache brain MRI at onset suggesting The patient showed resistance treatment acetazolamide and, after one month, developed neuritis...
Background and aim. Tuberous Sclerosis Complex (TSC) is associated with a high rate of attention deficit - hyperactivity disorder (ADHD), usually more severe symptoms than in idiopathic cases. Event related potentials have been used ADHD, they proposed as possible biomarker severity. Aim this study was to investigate ERP characteristics patients ADHD secondary TSC, compared drug naïve healthy controls (HC), whether: 1) distinct clinical features can be due different pathophysiological...
Despite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality morbidity rates. Our aim was to evaluate presentation clinical course, neurodevelopmental outcome, genetic findings of neonates AVSs.In this retrospective observational study, medical records cerebral AVSs admitted our hospital from January 2020 July 2022 were revised. In particular, we evaluated neuroimaging...