Paolo Curatolo

Summary

Affiliation: University of Rome Tor Vergata
Country: Italy

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi The neurobiological basis of ADHD
    Paolo Curatolo
    Department of Neuroscience, Tor Vergata University of Rome, Italy
    Ital J Pediatr 36:79. 2010
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Publications99

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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...
  4. ncbi 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...
  5. ncbi 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
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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
    ....
  10. ncbi 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. ncbi 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...
  12. ncbi 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. ncbi 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...
  14. ncbi 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...
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi 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...
  18. ncbi 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...
  19. ncbi 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...
  20. ncbi 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
    ....
  21. ncbi 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...
  22. ncbi 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...
  23. ncbi 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...
  24. ncbi 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...
  25. ncbi 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
    ....
  26. ncbi 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
    ....
  27. ncbi 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...
  28. ncbi 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...
  29. ncbi 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
    ....
  30. ncbi 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...
  31. ncbi 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...
  32. ncbi 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...
  33. ncbi 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...
  34. ncbi 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
    ....
  35. ncbi 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...
  36. ncbi 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
    ..New evidence suggests that mTOR inhibitors may be helpful in the management of intractable epilepsy for individuals with TSC...
  37. ncbi 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...
  38. ncbi 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...
  39. ncbi 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)...
  40. ncbi 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...
  41. ncbi 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...
  42. ncbi 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...
  43. ncbi 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
    ....
  44. ncbi 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...
  45. ncbi 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...
  46. ncbi 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...
  47. ncbi "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...
  48. ncbi 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...
  49. ncbi 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...
  50. ncbi 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
    ....
  51. ncbi 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...
  52. ncbi 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...
  53. ncbi 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...
  54. ncbi 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...
  55. ncbi Brain damage in preterm infants: etiological pathways
    Carla Arpino
    , , 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...
  56. ncbi 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...
  57. ncbi 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...
  58. ncbi 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 Electronic address
    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...
  59. ncbi 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
    ..Further studies are needed to determine the optimal levels of mTOR inhibitors that preserve maximal anti-tumor efficacy while minimizing side effects...
  60. ncbi 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...
  61. ncbi 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
    ..Our meta-analysis shows that, in children with cerebral palsy, intensive conventional therapy may improve the functional motor outcome, but the effect size seems to be modest...
  62. ncbi 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...
  63. ncbi 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...
  64. ncbi 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...
  65. ncbi 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...
  66. ncbi 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...
  67. ncbi 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...
  68. ncbi 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
    ....
  69. ncbi Clinical Reasoning: A girl presenting with stiffness episodes during sleep, cafe-au-lait spots, and flecked retina
    Romina Moavero
    From the Pediatric Neurology Unit R M, P C, Neuroscience Department, Tor Vergata University Hospital, Rome and Division of Neurology R C, F V and Cytogenetics and Molecular Genetics Unit M C R, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    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...
  70. ncbi 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 Electronic address
    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...
  71. ncbi 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...
  72. ncbi 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...
  73. ncbi 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...
  74. ncbi 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...
  75. ncbi 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...
  76. ncbi 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...
  77. ncbi 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
    ....
  78. ncbi 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
    ....
  79. ncbi 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...
  80. ncbi 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...
  81. ncbi 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...
  82. ncbi 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...
  83. ncbi 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...
  84. ncbi 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...
  85. ncbi 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...
  86. ncbi 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
    ....
  87. ncbi Child neurology: role of the International Association
    Paolo Curatolo
    Dev Med Child Neurol 46:147. 2004
  88. ncbi 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
    ..The "additive effect" hypothesis is discussed in detail in the light of our results and recent literature...
  89. ncbi Tuberous sclerosis: genes, brain, and behaviour
    Paolo Curatolo
    Dev Med Child Neurol 48:404. 2006
  90. ncbi Vigabatrin and epilepsy: further lessons in early childhood
    Pasquale Parisi
    Epilepsia 49:177-8. 2008
  91. ncbi 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...
  92. ncbi Association study of autistic disorder and chromosome 16p
    Paola Lucarelli
    Am J Med Genet A 119:242-6. 2003
  93. ncbi A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome
    Renata Rizzo
    Department of Pediatrics, Catania University, Italy
    J Child Neurol 19:908-11. 2004
    ..Early onset of neurologic manifestations is a poor prognostic factor for long-term outcome...
  94. ncbi Tuberous sclerosis complex and hydrosyringomielia: Report of two cases
    Giangennaro Coppola
    Clinic of Child Neuropsychiatry, Second University of Naples, Via Pansini 5, 80131 Naples, Italy
    Eur J Paediatr Neurol 10:37-40. 2006
    ..So far, tuberous sclerosis had not been reported to involve primarily the spinal cord, and other factors directly linked to syringomiely are not present in both these patients...
  95. ncbi Two-loci ADA haplotypes in autistic disorder
    Paola Lucarelli
    Am J Med Genet 108:339-40. 2002
  96. ncbi The neurology of attention deficit/hyperactivity disorder
    Paolo Curatolo
    Brain Dev 27:541-3. 2005
  97. ncbi Pharmacologic treatment of autism
    Mark T Palermo
    Research Center for Autism, Associazione Anni Verdi, Via Silvio Sbricoli 8, 00148 Rome, Italy
    J Child Neurol 19:155-64. 2004
    ..The application of molecular genetic investigations and pharmacogenetics in the diagnostic work-up of autistic patients can lead to more effective individualized medical care...
  98. ncbi Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy
    Epilepsy Res 79:63-70. 2008
    ..Further studies are necessary to better define the electroclinical patterns of patients carrying deletions in 2q24-q31. These may help to direct systematic study of this--probably underestimated--cause of severe epilepsy...
  99. ncbi Convulsive disorder and the genetics of signal transduction; a study of a low molecular weight protein tyrosine phosphatase in a pediatric sample
    Nunzio Bottini
    The Burnham Institute, La Jolla, CA, USA
    Neurosci Lett 333:159-62. 2002
    ..005). No significant difference was observed between febrile convulsion cases and controls. These observations suggest a protective role of the high activity ACP1 phenotypes against seizures in children...