Paolo Curatolo

Summary

Affiliation: University of Rome Tor Vergata
Country: Italy

Publications

  1. ncbi request reprint Pharmacotherapy of idiopathic generalized epilepsies
    Paolo Curatolo
    Tor Vergata University, Pediatric Neurology Unit, Department of Neurosciences, Rome, 00133, Italy
    Expert Opin Pharmacother 10:5-17. 2009
  2. pmc Recent advances in the pathogenesis of syndromic autisms
    A Benvenuto
    Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, 00133 Rome, Italy
    Int J Pediatr 2009:198736. 2009
  3. pmc mTOR Inhibitors in Tuberous Sclerosis Complex
    Paolo Curatolo
    Pediatric Neurology Unit, Neuroscience Department, Tor Vergata University Hospital, Rome, Italy
    Curr Neuropharmacol 10:404-15. 2012
  4. doi request reprint mTOR inhibitors as a new therapeutic option for epilepsy
    Paolo Curatolo
    Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy
    Expert Rev Neurother 13:627-38. 2013
  5. doi request reprint Tuberous sclerosis
    P Curatolo
    Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy Electronic address
    Handb Clin Neurol 111:323-31. 2013
  6. doi request reprint Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations
    Paolo Curatolo
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
    Eur J Paediatr Neurol 16:582-6. 2012
  7. pmc Candidate gene study of HOXB1 in autism spectrum disorder
    Lucia A Muscarella
    Medical Genetics Service, IRCCS Casa Sollievo dalla Sofferenza, San Giovanni Rotondo, FG, Italy
    Mol Autism 1:9. 2010
  8. pmc Conceptual and methodological challenges for neuroimaging studies of autistic spectrum disorders
    Luigi Mazzone
    Division of Child Neurology and Psychiatry, Department of Pediatrics, University of Catania, Catania, Italy
    Behav Brain Funct 6:17. 2010
  9. pmc Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1
    Roberto Sacco
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Via Longoni 83, I 00155 Rome, Italy
    BMC Med Genet 8:11. 2007
  10. ncbi request reprint Autism in tuberous sclerosis
    Paolo Curatolo
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Via di Tor Vergata 135, 00133 Rome, Italy
    Eur J Paediatr Neurol 8:327-32. 2004

Detail Information

Publications109 found, 100 shown here

  1. ncbi request reprint Pharmacotherapy of idiopathic generalized epilepsies
    Paolo Curatolo
    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...
  2. pmc Recent advances in the pathogenesis of syndromic autisms
    A Benvenuto
    Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, 00133 Rome, Italy
    Int J Pediatr 2009:198736. 2009
    ..Identifying cryptic chromosomal abnormalities by whole genome microarray analysis can increase the understanding of the neurobiological pathways to autism...
  3. pmc mTOR Inhibitors in Tuberous Sclerosis Complex
    Paolo Curatolo
    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...
  4. doi request reprint mTOR inhibitors as a new therapeutic option for epilepsy
    Paolo Curatolo
    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...
  5. doi request reprint Tuberous sclerosis
    P Curatolo
    Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy Electronic address
    Handb Clin Neurol 111:323-31. 2013
    ..Increasing understanding of the molecular abnormalities caused by TSC may enable improved management of the disease...
  6. doi request reprint Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations
    Paolo Curatolo
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
    Eur J Paediatr Neurol 16:582-6. 2012
    ..This report summarizes the clinical recommendations for the management of TSC-associated epilepsy made by a panel of European experts in March 2012. Current treatment options and outstanding questions are outlined...
  7. pmc Candidate gene study of HOXB1 in autism spectrum disorder
    Lucia A Muscarella
    Medical Genetics Service, IRCCS Casa Sollievo dalla Sofferenza, San Giovanni Rotondo, FG, Italy
    Mol Autism 1:9. 2010
    ..An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies...
  8. pmc Conceptual and methodological challenges for neuroimaging studies of autistic spectrum disorders
    Luigi Mazzone
    Division of Child Neurology and Psychiatry, Department of Pediatrics, University of Catania, Catania, Italy
    Behav Brain Funct 6:17. 2010
    ..We believe that this would allow for a better understanding of both the central pathogenic processes and the compensatory responses in the brain of persons suffering from ASDs...
  9. pmc Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1
    Roberto Sacco
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Via Longoni 83, I 00155 Rome, Italy
    BMC Med Genet 8:11. 2007
    ..Hyperserotoninemia, macrocephaly, and peptiduria represent some of the best-characterized endophenotypes in autism research...
  10. ncbi request reprint Autism in tuberous sclerosis
    Paolo Curatolo
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Via di Tor Vergata 135, 00133 Rome, Italy
    Eur J Paediatr Neurol 8:327-32. 2004
    ..Hopefully, early diagnosis of autism will allow for earlier treatment and the potential for better outcome for children with Tuberous Sclerosis...
  11. doi request reprint The neurobiology of attention deficit/hyperactivity disorder
    Paolo Curatolo
    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...
  12. ncbi request reprint Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment
    Paolo Curatolo
    Department of Neuroscience, Section of Pediatric Neurology, Tor Vergata University of Rome, Rome, Italy
    J Child Neurol 20:318-25. 2005
    ....
  13. doi request reprint Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment
    Paolo Curatolo
    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...
  14. doi request reprint Management of epilepsy in tuberous sclerosis complex
    P Curatolo
    Tor Vergata University, Department of Neurosciences, Pediatric Neurology Unit, Rome, Italy
    Expert Rev Neurother 8:457-67. 2008
    ..Understanding the mechanisms of epileptogenesis and the possible role of the mTOR pathway in this process might increase the availability of novel and targeted therapies...
  15. ncbi request reprint Current management for epilepsy in tuberous sclerosis complex
    Paolo Curatolo
    Pediatric Neurology Unit, Department of Neurosciences, Tor Vergata University, Via Montpellier no 1, 00133 Rome, Italy
    Curr Opin Neurol 19:119-23. 2006
    ....
  16. ncbi request reprint Education in child neurology: the role of the International Child Neurology Association (ICNA)
    Paolo Curatolo
    Neuroscience Department, Pediatric Neurology Unit, Tor Vergata University, Rome, Italy
    J Child Neurol 25:1444-9. 2010
    ..The challenges and success of ICNA in the promotion of educational resources and recommendations for the future are discussed...
  17. pmc The neurobiological basis of ADHD
    Paolo Curatolo
    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...
  18. ncbi request reprint Infantile spasms in tuberous sclerosis complex
    P Curatolo
    Pediatric Neurology, Department of Neurosciences, Tor Vergata University, Rome, Italy
    Brain Dev 23:502-7. 2001
    ..Studies using combined topographic mapping of EEG, magnetic resonance imaging and positron emission tomography may provide new strategies for selecting candidates suitable for surgery...
  19. ncbi request reprint Vigabatrin for tuberous sclerosis complex
    P Curatolo
    Department of Neurosciences, Pediatric Neurology, Tor Vergata University, Via di Tor Vergata 135, 00133 Rome, Italy
    Brain Dev 23:649-53. 2001
    ..Currently the minimum duration and doses of VGB treatment that can produce side effects are unknown. The feasibility of using short treatment periods (2-3 months) should be investigated...
  20. ncbi request reprint Tuberous sclerosis complex: a review of neurological aspects
    Paolo Curatolo
    Department of Neurosciences Section of Paediatric Neurology, Tor Vergata University of Rome, Italy
    Eur J Paediatr Neurol 6:15-23. 2002
    ..The finding of multiple areas of cerebral involvement should not automatically preclude epilepsy surgery in a child with intractable seizures and a well defined seizure origin...
  21. ncbi request reprint The International Child Neurology Association: personal view
    Paolo Curatolo
    Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
    J Child Neurol 18:786-94. 2003
  22. pmc Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes
    Valerio Napolioni
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Rome, Italy
    Eur J Hum Genet 19:353-9. 2011
    ..Our results also raise interest into ITGB3 influences on feto-maternal immune interactions in autism...
  23. ncbi request reprint Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures
    Anna Volzone
    Department of Neurosciences, Pediatric Neurology Unit, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    J Child Neurol 22:907-10. 2007
    ..Further studies are needed to investigate if possible polymorphic variants of SCN2A gene may influence seizures susceptibility of idiopathic generalized epilepsy with tonic-clonic seizures...
  24. doi request reprint Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis
    Raffaella Cusmai
    Division of Neurology, Bambino Gesu Children s Hospital, Rome, Italy
    Epilepsy Behav 22:735-9. 2011
    ....
  25. pmc Sleep spindle activity is correlated with reading abilities in developmental dyslexia
    Oliviero Bruni
    Center for Pediatric Sleep Disorders, Department of Developmental Neurology and Psychiatry, Sapienza University, Rome, Italy
    Sleep 32:1333-40. 2009
    ..To analyze sleep architecture of children with dyslexia, by means of conventional parameters and EEG spectral analysis and to correlate sleep parameters and EEG spectra with neuropsychological measures...
  26. doi request reprint Attention impairment in childhood absence epilepsy: an impulsivity problem?
    Caterina Cerminara
    Unit of Child Neurology and Psychiatry, Department of Neuroscience, University of Rome Tor Vergata, Italy
    Epilepsy Behav 27:337-41. 2013
    ..Our findings suggest that patients with CAE were impaired in tonic and phasic alertness, divided attention, selective attention, and impulsivity...
  27. ncbi request reprint Cluster analysis of autistic patients based on principal pathogenetic components
    Roberto Sacco
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Rome, Italy
    Autism Res 5:137-47. 2012
    ..7 x 10(-45)), followed by "stereotypic behaviors." These patient clusters may likely differ in genetic and immune underpinnings, developmental trajectories, and response to treatment...
  28. doi request reprint Principal pathogenetic components and biological endophenotypes in autism spectrum disorders
    Roberto Sacco
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Rome, Italy
    Autism Res 3:237-52. 2010
    ....
  29. doi request reprint Early control of seizures improves long-term outcome in children with tuberous sclerosis complex
    Roberta Bombardieri
    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...
  30. ncbi request reprint Association of adenosine deaminase polymorphism with mild mental retardation
    Patrizia Saccucci
    Department of Neurosciences, Pediatric Neurology Unit, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    J Child Neurol 21:753-6. 2006
    ..In conclusion, our findings suggest a possible role for a low-activity genotype (ADA-8Asn) (ADA(1) *2) of adenosine deaminase in the pathogenesis of mild mental retardation...
  31. doi request reprint De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems
    Adriana Lo-Castro
    Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Viale Oxford 81, 00133 Rome, Italy
    Eur J Med Genet 54:329-32. 2011
    ....
  32. ncbi request reprint Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspects
    Caterina Cerminara
    Department of Neuroscience, Child Neurology Unit, Tor Vergata, University of Rome, 00133, Rome, Italy
    J Child Neurol 25:238-45. 2010
    ....
  33. ncbi request reprint Lack of association between IDE genetic variability and Down's syndrome
    Carla Arpino
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
    Neurosci Lett 382:93-5. 2005
    ..e., IDE 185 and IDE 199). In conclusion, the findings of our study suggest that the two IDE polymorphisms considered in the analysis do not appear to play a major role in DS-related AD...
  34. doi request reprint Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism
    Cinzia Galasso
    Department of Neuroscience, Pediatric Neurology Unit, University of Rome, Rome, Italy
    J Child Neurol 23:802-6. 2008
    ..ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature...
  35. ncbi request reprint Does cesarean section prevent mortality and cerebral ultrasound abnormalities in preterm newborns?
    Carla Arpino
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
    J Matern Fetal Neonatal Med 20:151-9. 2007
    ..To investigate the role of CS, we compared risks of mortality and brain damage, as defined by ultrasound (US) abnormalities, in preterm newborns by mode of delivery...
  36. doi request reprint Urinary p-cresol is elevated in small children with severe autism spectrum disorder
    Laura Altieri
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Via Alvaro del Portillo 21, Rome, Italy
    Biomarkers 16:252-60. 2011
    ..Hence, elevated urinary p-cresol may serve as a biomarker of autism liability in small children, especially females and more severely affected males...
  37. doi request reprint Benign childhood epilepsy with centrotemporal spikes and the multicomponent model of attention: a matched control study
    Caterina Cerminara
    Unit of Child Neurology and Psychiatry, Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy
    Epilepsy Behav 19:69-77. 2010
    ..To the best of our knowledge, this is the first study in which the multicomponent model of attentional function has been used in children with BCECTS to provide a clearer neuropsychological profile of these patients...
  38. ncbi request reprint Interstitial deletion of a proximal 3p: a clinically recognisable syndrome
    Cristina Lalli
    Neuroscience Department, Pediatric Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133 Rome, Italy
    Brain Dev 29:312-6. 2007
    ..Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome...
  39. doi request reprint Attention and executive functions profile in childhood absence epilepsy
    Elisa D'Agati
    Department of Neuroscience, Child Neurology and Psychiatry Unit, Tor Vergata University of Rome, Italy
    Brain Dev 34:812-7. 2012
    ..Future studies that systematically examine different aspects of attention and executive functions are needed to outline a clear and specific neuropsychological profile in CAE...
  40. doi request reprint Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1-q22.2 deletion
    Maria Cristina Porfirio
    Department of Child Psychiatry Unit, Tor Vergata University of Rome, Rome, Italy
    Psychiatr Genet 22:202-5. 2012
    ....
  41. doi request reprint Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges
    Romina Moavero
    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...
  42. ncbi request reprint Association between D18S474 locus on chromosome 18q12 and idiopathic generalized epilepsy
    Paola Lucarelli
    Institute of Molecular Biology and Pathology, National Research Council, Rome, Italy
    Brain Dev 29:9-12. 2007
    ..001). In conclusions, our findings show the association between the D18S474 marker and IGE in which early onset GTCS represent the most prevalent seizure type...
  43. ncbi request reprint Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex
    Luigi D'Argenzio
    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...
  44. pmc Focal epilepsy with ictal abdominal pain: a case report
    Caterina Cerminara
    Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Viale Oxford, 81, 00133 Rome, Italy
    Ital J Pediatr 39:76. 2013
    ..We suggest that, after the exclusion of more common etiologies, focal epilepsy with ictal abdominal pain should be considered in patients with paroxysmal abdominal pain and ictal EEG abnormalities. ..
  45. pmc Is mTOR inhibition a systemic treatment for tuberous sclerosis?
    Romina Moavero
    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. ..
  46. doi request reprint Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders
    Raffaella Cusmai
    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...
  47. doi request reprint The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective
    Romina Moavero
    Neuroscience Department, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
    Childs Nerv Syst 27:1203-10. 2011
    ....
  48. pmc "Idiopathic" mental retardation and new chromosomal abnormalities
    Cinzia Galasso
    Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Italy
    Ital J Pediatr 36:17. 2010
    ..We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition...
  49. doi request reprint Clinical Reasoning: a girl presenting with stiffness episodes during sleep, cafe-au-lait spots, and flecked retina
    Romina Moavero
    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...
  50. doi request reprint Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes
    Caterina Cerminara
    Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Viale Oxford 81, 00133 Rome, Italy
    Seizure 21:70-4. 2012
    ..However, recent interesting observations in animal models suggest that BCECTS and CAE could be pathophysiologically related and that genetic links could play a large role...
  51. doi request reprint Motor examination in children with Attention-deficit/hyperactivity Disorder and Asperger Syndrome
    Augusto Pasini
    Department of Neuroscience, Child Neurology and Psychiatry Unit, Tor Vergata University of Rome, Italy
    Acta Paediatr 101:e15-8. 2012
    ..Evaluating whether motor skills could differentiate drug-naive subjects with two neurodevelopmental disorders: Attention-Deficit Hyperactivity Disorder (ADHD) and Asperger Syndrome (AS)...
  52. ncbi request reprint Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome
    Augusto Pasini
    Department of Neuroscience, University of Rome Tor Vergata, Roma, Italy
    Brain Dev 32:425-7. 2010
    ..An altered preset of the glutamate receptors, due to the presence of a haploinsufficiency of SHANK3/PROSAP2, could explain the different results of risperidone therapy observed in our patient with 22q13.3 deletion syndrome...
  53. ncbi request reprint Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation
    Patrizia Saccucci
    Division of Human Population and Environmental Pathology, Department of Biopathology and Imaging Diagnostics, University of Rome Tor Vergata, Rome, Italy
    Nutr Neurosci 11:241-2. 2008
    ..Findings suggest that there is no association between MTHFR C677T and MTHFR A1298C and mental retardation in the studied Italian population and that these polymorphisms are not contributing to the aetiology of mental retardation...
  54. ncbi request reprint Deletion of the long arm of chromosome 6: report on a new case with intractable epilepsy
    Caterina Cerminara
    Department of Neuroscience, Division of Pediatric Neurology, Tor Vergata University of Rome, Via Nomentana 1362, 00100 Rome, Italy
    J Child Neurol 21:527-31. 2006
    ..We report on a novel finding in a patient with the 46 XX karyotype and del(6)(q25-q26) who developed intractable epilepsy...
  55. doi request reprint Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex
    Elisa D'Agati
    Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133 Rome, Italy
    J Child Neurol 24:1282-7. 2009
    ....
  56. ncbi request reprint Lamotrigine-induced seizure aggravation and negative myoclonus in idiopathic rolandic epilepsy
    Caterina Cerminara
    Department of Developmental Neurology and Psychiatry, Division of Neurosciences, Tor Vergata University, Rome, Italy
    Neurology 63:373-5. 2004
    ..This rare event may have similarities with carbamazepine-induced seizure worsening caused by the Na++ channel inhibitory effect of the two antiepileptic drugs...
  57. doi request reprint MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations
    Carla Arpino
    Department of Neuroscience, Pediatric Neurology Unit Tor Vergata University of Rome, Rome, Italy
    Childs Nerv Syst 27:665-9. 2011
    ..At the same time, twin gestation with co-twin demise is an important potential risk factor for premature brain damage...
  58. doi request reprint Attention deficit hyperactivity disorder in children with epilepsy
    Pasquale Parisi
    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...
  59. ncbi request reprint Pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (TSC2) mutation
    Roberta Bombardieri
    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...
  60. doi request reprint Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study
    Romina Moavero
    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...
  61. ncbi request reprint Tuberous sclerosis
    Paolo Curatolo
    Department of Neurosciences, Paediatric Neurology Unit, Tor Vergata University, Rome, Italy
    Lancet 372:657-68. 2008
    ..Identification of patients at risk for severe manifestations is crucial. Increasing understanding of the molecular abnormalities caused by tuberous sclerosis may enable improved management of this disease...
  62. ncbi request reprint Brain damage in preterm infants: etiological pathways
    Carla Arpino
    Unità di Neurologia Pediatrica, Universita degli Studi Tor Vergata, Rome, Italy
    Ann Ist Super Sanita 41:229-37. 2005
    ..The relationship between the two pathways and the contribution of genetic susceptibility to ischemic and/or inflammatory insult, in modulating the extent and severity of brain damage, is also discussed...
  63. doi request reprint Preterm birth and neurodevelopmental outcome: a review
    Carla Arpino
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, Italy
    Childs Nerv Syst 26:1139-49. 2010
    ..As a consequence, the risk of developmental disabilities in preterm children is high, and clinical pictures need to be fully defined...
  64. ncbi request reprint Hypohidrosis during topiramate treatment: a rare and reversible side effect
    Caterina Cerminara
    Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University, Rome, Italy
    Pediatr Neurol 34:392-4. 2006
    ..Although a definite causal relationship still needs to be established, this side effect might be attributed to an autonomic dysfunction by inhibition of isoenzymes of carbonic anhydrase localized in human eccrine sweat glands...
  65. doi request reprint ADHD and genetic syndromes
    Adriana Lo-Castro
    Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Italy
    Brain Dev 33:456-61. 2011
    ..Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes...
  66. doi request reprint The relationship between sleep and epilepsy: the effect on cognitive functioning in children
    Pasquale Parisi
    Child Neurology and Sleep Paediatric Disorders Centre, II Faculty of Medicine, Sapienza University, Sant Andrea Hospital, Rome, Italy
    Dev Med Child Neurol 52:805-10. 2010
    ....
  67. doi request reprint Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II
    Cinzia Galasso
    Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, Rome, Italy
    Pediatr Neurol 38:435-8. 2008
    ..We also review the neurologic aspects of this disorder compared with syndromes with overlapping phenotypes, such as microcephalic osteodysplastic primordial dwarfism types I and III and Seckel syndrome...
  68. doi request reprint Syndromic autism: causes and pathogenetic pathways
    Arianna Benvenuto
    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...
  69. ncbi request reprint Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?
    Cinzia Galasso
    Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy
    J Child Neurol 22:1252-5. 2007
    ..These clinical findings could be explained by the new classification of brain malformations, which takes into account the role of neural crest in Waardenburg syndrome...
  70. doi request reprint Pharmacotherapy of autism spectrum disorders
    Arianna Benvenuto
    Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Tor Vergata University, Via Montpellier 1, Rome, Italy
    Brain Dev 35:119-27. 2013
    ..Recent animal studies can be useful models for understanding the common pathogenic pathways leading to autism spectrum disorders (ASDs), and have the potential to offer new biologically focused treatment options...
  71. pmc HERVs expression in Autism Spectrum Disorders
    Emanuela Balestrieri
    Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, Rome, Italy
    PLoS ONE 7:e48831. 2012
    ..Here we have studied the expression of Human Endogenous Retroviruses (HERVs), non-coding DNA elements with potential regulatory functions, and have tested their possible implication in autism...
  72. pmc Lack of infection with XMRV or other MLV-related viruses in blood, post-mortem brains and paternal gametes of autistic individuals
    Carla Lintas
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Rome, Italy
    PLoS ONE 6:e16609. 2011
    ..Recently, the xenotropic murine leukemia virus-related virus (XMRV) has been implicated in chronic fatigue syndrome (CFS) and in prostate cancer by several, though not all studies...
  73. ncbi request reprint Current role of vigabatrin in infantile spasms
    Pasquale Parisi
    Child Neurology and Paediatric Sleep Centre, La Sapienza II University c o Sant Andrea Hospital, Rome, Italy
    Eur J Paediatr Neurol 11:331-6. 2007
    ..In infants with spasms due to other causes, the risk of ophthalmologic toxicity should be carefully weighted against the benefit of controlling spasms...
  74. ncbi request reprint Attention and executive functions profile in drug naive ADHD subtypes
    Augusto Pasini
    Department of Neuroscience, University of Rome Tor Vergata, Via Alberico 2 n 35, 00193 Rome, Italy
    Brain Dev 29:400-8. 2007
    ..In addition, this study candidates the impairment in phonological and visual-object working memory as a possible neuropsychological trait in ADHD males with inattentive or combined subtypes...
  75. ncbi request reprint Efficacy of intensive versus nonintensive physiotherapy in children with cerebral palsy: a meta-analysis
    Carla Arpino
    Department of Neuroscience, University of Tor Vergata, Rome, Italy
    Int J Rehabil Res 33:165-71. 2010
    ..In this study we compared the efficacy of intensive versus nonintensive rehabilitative treatment in children with cerebral palsy. A meta-analysis of the studies published between January 1996 and July 2007 was performed...
  76. ncbi request reprint Neurologic aspects of 49,XXXXY syndrome
    Cinzia Galasso
    Division of Paediatric Neurology, Tor Vergata University of Rome, Italy
    J Child Neurol 18:501-4. 2003
    ..Finally, we discuss testosterone supplementation in the treatment of this syndrome...
  77. ncbi request reprint Cortical maldevelopment in congenital cytomegalovirus infection transmitted by a woman with preexisting immunity
    C Arpino
    Department of Neurosciences, Paediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
    J Neurovirol 14:173-6. 2008
    ..CMV DNA was detected in the urine and blood of the infant. These findings indicate that the neurological outcome of CMV infection may be severe also in infants born to women with preexisting immunity...
  78. ncbi request reprint Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism
    P Saccucci
    Department of Neurosciences, School of Medicine, University of Tor Vergata, Rome, Italy
    Neurogenetics 5:245-8. 2004
    ....
  79. ncbi request reprint Association of Trp53 polymorphic variants at codon 72 with nonsyndromic mental retardation
    P Saccucci
    Division of Human Population and Environmental Pathology, Department of Biopathology and Imaging Diagnostics, University of Rome, Tor Vergata, School of Medicine, Rome, Italy
    Neurosci Res 59:47-50. 2007
    ..5% versus 14.08%) (OR=0.42; 95% CI 0.21-0.83). These data suggest that subjects carrying the Pro allele are protected from this disease...
  80. doi request reprint Genetic polymorphism and idiopathic generalized epilepsy. Evidence of interaction between haptoglobin and ACP1 systems
    F Gloria-Bottini
    Division of Biopathology of Human Populations and Environmental Pathology, Department of Biopathology and Imaging Diagnostics, University of Rome Tor Vergata, Rome, Italy
    Neuropediatrics 39:357-8. 2008
    ..This is not observed in carriers of other ACP1 types.The present data suggest an epistatic action of ACP1 concerning the effect of Hp on the susceptibility to convulsive disorders...
  81. ncbi request reprint Clinical, morphological, and biochemical correlates of head circumference in autism
    Roberto Sacco
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, and I R C C S Fondazione Santa Lucia, Rome, Italy
    Biol Psychiatry 62:1038-47. 2007
    ..Head growth rates are often accelerated in autism. This study is aimed at defining the clinical, morphological, and biochemical correlates of head circumference in autistic patients...
  82. doi request reprint Massive hepatic angiomyolipoma in a young woman with tuberous sclerosis complex: significant clinical improvement during tamoxifen treatment
    Ilaria Lenci
    Liver Unit, Tor Vergata University, Viale Oxford 81, 00133 Rome, Italy
    J Hepatol 48:1026-9. 2008
    ..Because of their slow growth, these tumors are often asymptomatic. Since AMLs express estrogen and progesteron receptors we suggest the possible benefits of tamoxifen for the treatment of liver AMLs...
  83. ncbi request reprint Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression
    C Lintas
    Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio Medico, Rome, Italy
    Mol Psychiatry 14:705-18. 2009
    ..Altogether, these data underscore potential PKCbeta roles in autism pathogenesis and spur interest in the identification and functional characterization of PRKCB1 gene variants conferring autism vulnerability...
  84. ncbi request reprint The role of -850 tumor necrosis factor-alpha and apolipoprotein E genetic polymorphism in patients with Down's syndrome-related dementia
    Paola Lucarelli
    Institute of Molecular Biology and Pathology, National Research Council, Rome, 00185 Rome, Italy
    Neurosci Lett 352:29-32. 2003
    ....
  85. ncbi request reprint Slow EEG amplitude oscillations during NREM sleep and reading disabilities in children with dyslexia
    Oliviero Bruni
    Department of Developmental Neurology and Psychiatry, Sapienza University, Rome, Italy
    Dev Neuropsychol 34:539-51. 2009
    ..To analyze non-rapid eye movement (NREM) sleep microstructure of children with dyslexia, by means of cyclic alternating pattern (CAP) analysis and to correlate CAP parameters with neuropsychological measures...
  86. ncbi request reprint Increased brain apparent diffusion coefficient in tuberous sclerosis
    Francesco G Garaci
    Department of Diagnostic Imaging and Interventional Radiology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy
    Radiology 232:461-5. 2004
    ..To evaluate the water diffusivity of normal-appearing white matter (NAWM) in patients with tuberous sclerosis complex compared with that in control subjects...
  87. doi request reprint Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents
    Alberto Verrotti
    Department of Paediatrics, University of Chieti, Rome, Italy
    Dev Med Child Neurol 50:29-32. 2008
    ..At 12-month evaluation: 29 patients were seizure free; three patients were responders. No patients reported adverse events. These data provide preliminary evidence that LEV may be effective for treating patients with newly diagnosed JME...
  88. ncbi request reprint Exanthematic diseases during pregnancy and attention-deficit/hyperactivity disorder (ADHD)
    Carla Arpino
    Department of Neuroscience, Pediatric Neurology and Psychiatry Unit, Tor Vergata University of Rome, Rome, Italy
    Eur J Paediatr Neurol 9:363-5. 2005
    ....
  89. doi request reprint Neuroimaging findings of Sturge-Weber Syndrome in a child with Tuberous Sclerosis
    P Curatolo
    Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
    Brain Dev 31:352-5. 2009
    ..The coexistence of signs of both diseases in the same individuals could be explained by common altered pathways that could lead to an anomalous angiogenesis...
  90. ncbi request reprint Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: an EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome
    A Romigi
    Servizio di Neurofisiopatologia Policlinico Tor Vergata Università di Roma Tor Vergata, V le Oxford 81, 00133 Rome, Italy
    Int J Neurosci 113:307-14. 2003
    ..DSC MRI is useful in the evaluation of regions involved in the genesis of ictal and interictal epileptiform activity. Furthermore, we hypothesize that our patient would be affected by a new possible genetic syndrome...
  91. pmc GABA(A) receptor active steroids are altered in epilepsy patients with tuberous sclerosis
    F di Michele
    Neuroendocrinology Laboratory, IRCCS Santa Lucia, Rome, Italy
    J Neurol Neurosurg Psychiatry 74:667-70. 2003
    ..There is evidence for a relation between neuroactive steroids and seizure susceptibility...
  92. ncbi request reprint Autism: evidence of association with adenosine deaminase genetic polymorphism
    N Bottini
    Department of Internal Medicine, Tor Vergata University of Rome, Rome, Italy
    Neurogenetics 3:111-3. 2001
    ..00001), and in both study populations (P < 0.001 and P < 0.025). We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism...
  93. ncbi request reprint Autism and metabolic diseases
    Barbara Manzi
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Via di Tor Vergata 135, Rome, Italy
    J Child Neurol 23:307-14. 2008
    ..In some patients, early diagnosis of the metabolic disorders and proper therapeutic interventions may significantly improve the long-term cognitive and behavioral outcome...
  94. doi request reprint Association of syndromic mental retardation and autism with 22q11.2 duplication
    A Lo-Castro
    Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
    Neuropediatrics 40:137-40. 2009
    ..We propose that in addition to 22q13.3 deletion syndrome, also 22q11.2 duplication should be suspected in a patient with unspecified dysmorphisms, mental retardation, autism, hypotonia, and severe speech delay...
  95. ncbi request reprint Neurologic aspects of adenylosuccinate lyase deficiency
    F Ciardo
    Department of Neuroscience, Tor Vergata University of Rome, Italy
    J Child Neurol 16:301-8. 2001
    ..A search for this disorder should be included in the screening program of children with unexplained neonatal seizures or severe infantile epileptic encephalopathy...
  96. ncbi request reprint Tuberous sclerosis: genes, brain, and behaviour
    Paolo Curatolo
    Dev Med Child Neurol 48:404. 2006
  97. pmc Sleep architecture and NREM alterations in children and adolescents with Asperger syndrome
    Oliviero Bruni
    Center for Pediatric Sleep Disorders, Department of Developmental Neurology and Psychiatry, University La Sapienza, 00185 Rome, Italy
    Sleep 30:1577-85. 2007
    ....
  98. ncbi request reprint Child neurology: role of the International Association
    Paolo Curatolo
    Dev Med Child Neurol 46:147. 2004
  99. ncbi request reprint Disentangling the effects of Tourette syndrome and attention deficit hyperactivity disorder on cognitive and behavioral phenotypes
    Renata Rizzo
    Section of Child Neuropsychiatry, Department of Pediatrics, University of Catania, Italy
    Brain Dev 29:413-20. 2007
    ..Family histories were in accord with both TS and ADHD being genetic disorders, but sharing an overlap in only some cases. The "additive effect" hypothesis is discussed in detail in the light of our results and recent literature...
  100. doi request reprint Vigabatrin and epilepsy: further lessons in early childhood
    Pasquale Parisi
    Epilepsia 49:177-8. 2008
  101. ncbi request reprint Epilepsy surgery for tuberous sclerosis
    Pantaleo Romanelli
    Department of Neurosurgery, Stanford University, Palo Alto, California, USA
    Pediatr Neurol 31:239-47. 2004
    ..Additional techniques emerging in the neurosurgical field may add further treatment options to the current state of the art...