- Mammalian Target of Rapamycin Inhibitors and Life-Threatening Conditions in Tuberous Sclerosis Complex
Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Rome, Italy Child Neurology Unit, Neuroscience and Neurorehabilitation Department, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
Semin Pediatr Neurol 22:282-94. 2015
..mTOR inhibitors are thus proving to be a systemic therapy able to simultaneously address different and potentially life-threatening complications, giving the hope of improving life expectation in individuals with TSC. ..
- Is mTOR inhibition a systemic treatment for tuberous sclerosis?
Systems Medicine Department, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Via Montpellier 1, 00133, Rome, Italy
Ital J Pediatr 39:57. 2013
..Therefore, the positive effects that mTOR inhibition have on a wide variety of TSC disease manifestations make this a potential systemic treatment option for this genetic multifaceted disorder. ..
- Clinical Reasoning: a girl presenting with stiffness episodes during sleep, cafe-au-lait spots, and flecked retina
Pediatric Neurology Unit, Neuroscience Department, Tor Vergata University Hospital, Rome
Neurology 80:e42-6. 2013
..She did not present any neurologic deficit, but she failed to develop an age-appropriate speech, with a delay in the main language milestones...
- The neurobiological basis of ADHD
Department of Neuroscience, Tor Vergata University of Rome, Italy
Ital J Pediatr 36:79. 2010
..Drug treatment should always be part of a comprehensive plan that includes psychosocial, behavioural and educational advice and interventions...
- Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study
Pediatric Neurology Unit, Neuroscience Department, Tor Vergata University Hospital of Rome, Viale Oxford 81, 00133 Rome, Italy
Epilepsy Res 102:94-9. 2012
..Response to Rufinamide was not related to the age. Our experience suggests that Rufinamide can be effective in reducing focal seizure frequency in children with drug resistant epilepsy, and that it can be considered as a safe drug...
- Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis
Division of Neurology, Bambino Gesu Children s Hospital, Rome, Italy
Epilepsy Behav 22:735-9. 2011
- Early control of seizures improves long-term outcome in children with tuberous sclerosis complex
Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, Via Montpellier 1, Rome 00133, Italy
Eur J Paediatr Neurol 14:146-9. 2010
..Early control of seizures has a crucial role in preventing subsequent epileptic encephalopathy, and in reducing the cognitive/behavioural consequences of seizures, but does not guarantee for a normal mental outcome in children with TSC...
- Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex
Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133 Rome, Italy
J Child Neurol 24:1282-7. 2009
- The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective
Neuroscience Department, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
Childs Nerv Syst 27:1203-10. 2011
- Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders
Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
Epilepsy Res 108:542-6. 2014
..To evaluate the efficacy and tolerability of add-on rufinamide in children with refractory epilepsy symptomatic of neuronal migration disorders...
- Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges
Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133, Rome, Italy
Childs Nerv Syst 26:1495-504. 2010
..Dysregulated excitation probably has its roots in the disruption of GABAergic interneuron development. There is an age-dependent electroclinical expression of seizures, and epilepsy is often quite severe and unremitting...
- Pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (TSC2) mutation
Neuroscience Department, Pediatric Neurology Unit, Tor Vergata University Hospital of Rome, Italy
Endocr Pract 19:e124-8. 2013
..Pancreatic neuroendocrine tumors (PanNETs) are rare in children with tuberous sclerosis complex (TSC). The objective of this report is to describe a case of PanNET in a boy with TSC...
- mTOR inhibitors as a new therapeutic option for epilepsy
Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy
Expert Rev Neurother 13:627-38. 2013
..The authors reviewed the current knowledge of mTOR overactivation in different forms of epilepsy, and discuss the potential clinical use of mTOR inhibitors...
- Headache and attention deficit and hyperactivity disorder in children: common condition with complex relation and disabling consequences
Child Neurology, Headache Paediatric Center, Paediatric Sleep Disorders, NESMOS Department, Chair of Pediatrics, Faculty of Medicine and Psychology, Sapienza University, c o Sant Andrea Hospital, Rome, Italy Electronic address
Epilepsy Behav 32:72-5. 2014
..It will be crucial to gain a better understanding of how subcortical-cortical and corticocortical network development is altered during the onset of the disorders. ..
- Genotype/Phenotype Correlations in Tuberous Sclerosis Complex
Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital of Rome, Rome, Italy Electronic address
Semin Pediatr Neurol 22:259-73. 2015
..Furthermore, the increasing availability of disease registries to collect clinical and genetics data of patients help to define more valid and clinically oriented genotype or phenotype correlations. ..
- Cognitive development in females with PCDH19 gene-related epilepsy
Unit of Clinical Psychology, Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
Epilepsy Behav 42:36-40. 2015
..Larger cohort and long-term follow-up might be useful in defining cognitive features and in improving the care of patients with PCDH19...
- Attention deficit hyperactivity disorder in children with epilepsy
Department of Pediatrics La Sapienza University of Rome, Rome, Italy
Brain Dev 32:10-6. 2010
..Treatment with psychotropic drugs can be initiated safely in most children with epilepsy and ADHD symptoms...
- Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia
Neurology Unit, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
Eur J Paediatr Neurol 16:509-13. 2012
..In our patients ketogenic diet, in association with standard pharmacological therapy, determined dramatic reduction of seizures and improved quality of life...
- Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment
Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, Rome, Italy
J Child Neurol 25:873-80. 2010
..A greater understanding of the pathogenetic mechanisms underlying autism in tuberous sclerosis could help in devising targeted and potentially more effective treatment strategies...
- Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex
Paediatric Neurology and Psychiatry Unit, Neuroscience Department, Tor Vergata University, Rome, Italy
Epilepsy Res 87:102-5. 2009
..Such altered connectivity might play a role in TSC epileptic phenotype...
- Pharmacotherapy of idiopathic generalized epilepsies
Tor Vergata University, Pediatric Neurology Unit, Department of Neurosciences, Rome, 00133, Italy
Expert Opin Pharmacother 10:5-17. 2009
..Several new antiepileptic drugs (AEDs) have been studied in children with IGE...
- Timing and clinical characteristics of topiramate-induced psychosis in a patient with epilepsy and tuberous sclerosis
Department of Neuroscience, Unit of Child Neurology and Psychiatry, Tor Vergata University of Rome, Rome, Italy
Clin Neuropharmacol 37:38-9. 2014
..We hypothesized that psychotic symptoms appeared a month after the topiramate introduction because of the slow topiramate titration and protective effect of carbamazepine. ..
- Reduction in retinal nerve fiber layer thickness in tuberous sclerosis complex
Leonardo Emberti Gialloreti
Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy
Childs Nerv Syst 31:857-61. 2015
..Optical coherence tomography (OCT) is a fast, easy-to-perform, non-invasive, and cost-efficient method to assess retinal morphology in vivo and to measure the thickness of the retinal nerve fiber layer (RNFL)...
- Neurological and neuropsychiatric aspects of tuberous sclerosis complex
Neuroscience Department, Child Neurology and Psychiatry Division, University Hospital of Tor Vergata, Rome, Italy Electronic address
Lancet Neurol 14:733-45. 2015
- Current role of melatonin in pediatric neurology: clinical recommendations
Department of Developmental and Social Psychology, Sapienza University, Rome, Italy
Eur J Paediatr Neurol 19:122-33. 2015
..Melatonin, an indoleamine secreted by the pineal gland, plays a key role in regulating circadian rhythm. It has chronobiotic, antioxidant, anti-inflammatory and free radical scavenging properties...
- The neurobiology of attention deficit/hyperactivity disorder
Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
Eur J Paediatr Neurol 13:299-304. 2009
..Methylphenidate, as well as the catecholaminergic nonstimulant atomoxetine, are effective in improving ADHD symptoms...
- Syndromic autism: causes and pathogenetic pathways
Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University, Via Montpellier 1, 00133, Rome, RM, Italy
World J Pediatr 5:169-76. 2009
..This article aims to review the current understanding of the etiologies and the multiple pathogenetic pathways that are likely to lead to the autistic phenotype...
- mTOR Inhibitors in Tuberous Sclerosis Complex
Pediatric Neurology Unit, Neuroscience Department, Tor Vergata University Hospital, Rome, Italy
Curr Neuropharmacol 10:404-15. 2012
..This article will discuss the role of the mTOR pathway in TSC and review the pharmacokinetics, pharmacodynamics, clinical efficacy, and tolerability of mTOR inhibitors, along with their current place in clinical practice...