Staff:  

Lino Nobili, Full Professor   

Elisa De Grandis, Associate Professor 

Chiara Fiorillo, Fixed-Term Researcher
Sara Uccella, Fixed-Term Researcher           

Main lines of research are developed in the following areas: 

1. Epilepsy: 
In collaboration with the areas of Genetics, Neuroradiology and Neurosurgery and with national and international institutes, studies are underway on quantitative and qualitative structural and functional analysis for focal epilepsies of childhood; studies to identify new potential genetic variants related to focal epilepsy; and studies to apply new minimally invasive surgical techniques (MRg-LiTT) for the treatment of focal epilepsy.  Additional activities were carried out within the ERN EpiCare network, MNESYS project, LICE (Italian League Against Epilepsy), International League Against Epilepsy such as the development of new national guidelines for status epilepticus.

2. Sleep disorders:
Studies of sleep macrostructure and microstructure, sleep-wake rhythm in children with psychiatric disorders or psychopathological traits, neurodevelopmental disorders, and Rett syndrome are active; a study of neuropsychological aspects in patients with narcolepsy; study of sleep and circadian rhythm in pediatric onset epilepsy, and in subjects with hypothalamic dysfunction. In addition, in collaboration with the Neonatology Unit, a study of sleep in premature infants is underway.

3. Autism:

A project to observe and identify early individuals at risk of developing Autism Spectrum Disorder (ASD)and their families is active. In collaboration with the field of Medical Genetics, an analysis of rare and common variants as the oligogenic biological basis of the complex phenotype is underway, which has led to the identification of new genes.  Finally, a randomized clinical trial is underway to evaluate the efficacy, safety, and tolerability of a new drug product in patients with ASD.

4. Rare neurological diseases:
Several research projects of the field of early-onset hereditary neuropathies and neuroradiological characterization of CMT1A are active in collaboration with the Neurology Branch of DINOGMI. A cell-based research project of patients with rare congenital myopathy is ongoing. A trial for patients younger than 18 aa with myasthenia gravis is active. There are 2 ongoing DINOGMI-funded studies on reanalysis of exomes from patients with neuromuscular diseases and application of mRNA seq from muscle biopsies, including a genomics and proteomics study in international collaboration for resolution in a complex case of PPP1R21opathy.
A project funded by the Ministry of Health on the creation of models of tubulinopathies using iPSCs and Drosophila melanogaster is active in collaboration with the Bambino Gesù Children's Hospital. A multicenter retrospective study is ongoing in patients with Aicardi-Goutières syndrome on JAK-inhibitor therapy. Studies of both pharmacological and outcome/natural history measures on Alternating Hemiplegia and Lesh-Nyan syndrome and a single-center case series study and characterization of muscle phenotype in patients with Bosch-Boonstra-Shaaf Optic Atrophy are ongoing.

5. Neuroimmunology:
A national multicenter study of immune-mediated neurological diseases is under development, specifically a study of anti-N-methyl-D-aspartate anti-receptor encephalitis and limbic encephalitis by anti-glutamic acid decarboxylase antibodies. A study of individuals with Opsoclonus-myoclonus and PANS/PANDAS is ongoing. In addition, a project has been initiated to search for early markers in pediatric patients with Multiple Sclerosis.

6. Psychiatry and Psychopharmacology:
Research in this area is strengthened by collaborative networks such as PREP-KIDS2 to study non-suicidal self-injurious behaviors and on attention deficit/hyperactivity disorder through prospective observational clinical trials. Genetic research on mood disorders and very early onset schizophrenia and high risk mental states has been implemented in collaboration with the field of Psychiatry and the field of Genetics. Pharmacogenetics and pharmacogenomics studies on the side effects of neuroleptic and anticonvulsant drugs commonly adopted in child/adolescent clinical practice are ongoing. 

7.Neurophysiology: 
A PhD project on multimodal methods of epileptogenic zone identification in stereo EEG candidate subjects and other studies in collaboration with bioengineering PhDs on epileptic abnormalities in REM and non-REM sleep with intracerebral electrodes and on bioengineering analysis that mechanisms that determine the evolution of an infraclinical paroxysm into seizure on signal from intracerebral electrodes is underway. A project on recording and analysis of EEG and stereo EEG signal during anesthesiological procedures is being activated