Marina Trivisano

Summary

Country: Italy

Publications

  1. doi request reprint Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy
    Marina Trivisano
    Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Clinic of Nervous System Diseases, University of Foggia, Foggia, Italy Electronic address
    Eur J Paediatr Neurol 19:248-50. 2015
  2. doi request reprint PRRT2 is mutated in familial and non-familial benign infantile seizures
    Nicola Specchio
    Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio 4, 00165 Rome, Italy
    Eur J Paediatr Neurol 17:77-81. 2013
  3. doi request reprint Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    J Child Neurol 27:439-44. 2012
  4. doi request reprint PCDH19-related epilepsy in two mosaic male patients
    Alessandra Terracciano
    Department of Neurosciences, Unit of Molecular Medicine, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsia 57:e51-5. 2016
  5. doi request reprint Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution
    Marina Trivisano
    Clinic of Nervous System Diseases, University of Foggia, Foggia, Italy
    Epilepsy Res 97:133-41. 2011
  6. doi request reprint Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
    Nicola Specchio
    Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Piazza S Onofrio 4, Rome, Italy
    Epilepsia 52:1251-7. 2011
  7. doi request reprint Peri-ictal water drinking: a rare automatic behaviour in temporal lobe epilepsy
    Nicola Pietrafusa
    Division of Neurology, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Rome, Department of Basic Medical Sciences, Neurosciences and Sense organs, University of Bari, Bari
    Epileptic Disord 17:384-96. 2015
  8. doi request reprint Cognitive development in females with PCDH19 gene-related epilepsy
    Simona Cappelletti
    Unit of Clinical Psychology, Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsy Behav 42:36-40. 2015
  9. doi request reprint Ictal vomiting as a sign of temporal lobe epilepsy confirmed by stereo-EEG and surgical outcome
    Nicola Pietrafusa
    Division of Neurology, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Rome, Italy Department of Basic Medical Sciences, Neurosciences and Sense organs, University of Bari, Bari, Italy
    Epilepsy Behav 53:112-6. 2015
  10. doi request reprint Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy
    Giuseppe D'Orsi
    Epilepsy Center, Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy
    Epilepsy Behav 25:401-7. 2012

Collaborators

Detail Information

Publications22

  1. doi request reprint Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy
    Marina Trivisano
    Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Clinic of Nervous System Diseases, University of Foggia, Foggia, Italy Electronic address
    Eur J Paediatr Neurol 19:248-50. 2015
    ..This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol. However further cases and above all clinical trials are necessary to confirm this result. ..
  2. doi request reprint PRRT2 is mutated in familial and non-familial benign infantile seizures
    Nicola Specchio
    Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio 4, 00165 Rome, Italy
    Eur J Paediatr Neurol 17:77-81. 2013
    ..Mutations of protein-rich transmembrane protein 2 (PRRT2) were recently associated to benign familial infantile seizures (BFIS) (MIM 605751) and paroxysmal kinesigenic dyskinesias (PKD) (MIM12800)...
  3. doi request reprint Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    J Child Neurol 27:439-44. 2012
    ..The lack of specific epileptiform abnormalities contributes to the difficulty of patients' management in Dravet syndrome...
  4. doi request reprint PCDH19-related epilepsy in two mosaic male patients
    Alessandra Terracciano
    Department of Neurosciences, Unit of Molecular Medicine, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsia 57:e51-5. 2016
    ..This finding opens new opportunities for the molecular diagnoses in patients with a peculiar type of epilepsy that remains undiagnosed in male patients. ..
  5. doi request reprint Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution
    Marina Trivisano
    Clinic of Nervous System Diseases, University of Foggia, Foggia, Italy
    Epilepsy Res 97:133-41. 2011
    ..Sixteen out of 18 patients remitted within 3.5 years since the onset and in two patients tonic seizures persisted. MAE is generalized childhood epilepsy: although cognitive functions might deteriorate, outcome is good regarding seizures...
  6. doi request reprint Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
    Nicola Specchio
    Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Piazza S Onofrio 4, Rome, Italy
    Epilepsia 52:1251-7. 2011
    ..To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations...
  7. doi request reprint Peri-ictal water drinking: a rare automatic behaviour in temporal lobe epilepsy
    Nicola Pietrafusa
    Division of Neurology, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Rome, Department of Basic Medical Sciences, Neurosciences and Sense organs, University of Bari, Bari
    Epileptic Disord 17:384-96. 2015
    ..Automatisms are more frequently described in patients with temporal lobe epilepsy. PIWD was reported also to have lateralizing significance in the non-dominant temporal lobe, however, because of its rarity, this finding remains unclear. ..
  8. doi request reprint Cognitive development in females with PCDH19 gene-related epilepsy
    Simona Cappelletti
    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...
  9. doi request reprint Ictal vomiting as a sign of temporal lobe epilepsy confirmed by stereo-EEG and surgical outcome
    Nicola Pietrafusa
    Division of Neurology, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Rome, Italy Department of Basic Medical Sciences, Neurosciences and Sense organs, University of Bari, Bari, Italy
    Epilepsy Behav 53:112-6. 2015
    ....
  10. doi request reprint Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy
    Giuseppe D'Orsi
    Epilepsy Center, Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy
    Epilepsy Behav 25:401-7. 2012
    ....
  11. doi request reprint Neonatal hemifacial spasm and fourth ventricle mass
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Dev Med Child Neurol 54:697-703. 2012
    ..We point out the importance of identifying such seizures in order to make an early diagnosis of the underlying cerebral lesion...
  12. doi request reprint Diagnosing photosensitive epilepsy: fancy new versus old fashioned techniques in patients with different epileptic syndromes
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Brain Dev 33:294-300. 2011
    ..To demonstrate the clinical importance of using a high quality photic stimulator for recording EEGs to diagnose photosensitivity...
  13. doi request reprint Occipital seizures induced by intermittent photic stimulation in Dravet syndrome
    Nicola Specchio
    Neurology Unit, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Seizure 23:309-13. 2014
    ..Photosensitivity is reported in more than 40% of patients. We present two cases of DS in which we had the chance to record occipital seizures induced by Intermittent Photic Stimulation (IPS)...
  14. doi request reprint Ictal yawning in a patient with drug-resistant focal epilepsy: video/EEG documentation and review of literature reports
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsy Behav 22:602-5. 2011
    ..This rare ictal manifestation should be recognized as epileptic to avoid misdiagnosis and treatment failure...
  15. doi request reprint CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures
    Marina Trivisano
    Neurology Unit, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsy Behav 51:53-6. 2015
    ....
  16. doi request reprint Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy
    Marina Trivisano
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsia 56:e53-7. 2015
    ..Further functional tests will be necessary to strongly relate CHRNA2 mutation with BFIS phenotype...
  17. doi request reprint Rolandic epilepsy: an uncommon presentation with leg motor seizures
    Lucia Fusco
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Epilepsia 51:2488-91. 2010
    ..We describe six children, among 230 with RE, who presented leg sensorimotor seizures as the mainly type of ictal manifestations...
  18. doi request reprint Migraine triggered by epileptic discharges in a Rasmussen's encephalitis patient after surgery
    Lucia Fusco
    Division of Neurology, Bambino Gesu Children s Hospital, Rome, Italy
    Brain Dev 33:597-600. 2011
    ..Although a casual relationship could not be excluded, a pure neuronal pathogenetic mechanism can be suggested, mediated by post- and inter-ictal cortical depression...
  19. pmc Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis
    Claudia Compagnucci
    Unit of Neuromuscular and Neurodegenerative diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Oncotarget 6:26804-13. 2015
    ..These data suggest that PCDH19 has a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain. ..
  20. doi request reprint Acute intralesional recording in hypothalamic hamartoma: description of 4 cases
    Nicola Specchio
    Division of Neurology, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, P za S Onofrio, 4 00165, Rome, Italy
    Acta Neurol Belg 115:233-9. 2015
    ..Mapping of HH epileptogenic activity could be useful to confirm the usefulness of disconnection procedure. This should consider on-site recording from the HH and if abnormalities are detected safely proceed to disconnection of the HH...
  21. doi request reprint Ictal video-polygraphic features of perioral myoclonia with absences
    Giuseppe D'Orsi
    Epilepsy Center Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy
    Epilepsy Behav 21:314-7. 2011
    ....
  22. ncbi request reprint A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Acta Neurol Belg 110:281-3. 2010
    ....