Nicola Specchio

Summary

Country: Italy

Publications

  1. ncbi 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
  2. ncbi Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsia 51:2098-107. 2010
  3. ncbi 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
  4. ncbi Idiopathic West Syndrome followed by childhood absence epilepsy
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Pza S Onofrio, 4 00165 Rome, Italy
    Seizure 19:597-601. 2010
  5. ncbi Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsy Behav 19:383-93. 2010
  6. ncbi Childhood refractory focal epilepsy following acute febrile encephalopathy
    N Specchio
    Division of Neurology, Clinical Neuropsychology Unit, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Eur J Neurol 18:952-61. 2011
  7. ncbi 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
  8. ncbi 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
  9. ncbi Prolonged episode of dystonia and dyskinesia resembling status epilepticus following acute intrathecal baclofen withdrawal
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsy Behav 21:321-3. 2011
  10. ncbi Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsia 52:e172-5. 2011

Detail Information

Publications26

  1. ncbi 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...
  2. ncbi Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsia 51:2098-107. 2010
    ..To explore the clinical, electroencephalography (EEG), neuropsychological features, and prognosis of Panayiotopoulos syndrome (PS)...
  3. ncbi 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...
  4. ncbi Idiopathic West Syndrome followed by childhood absence epilepsy
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Pza S Onofrio, 4 00165 Rome, Italy
    Seizure 19:597-601. 2010
    ..Even if a common physiophatogenetic role, probably related to a genetic predisposition, could be hypothesized and appears to be intriguing, no data are available and more studies are needed to confirm this hypothesis...
  5. ncbi Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsy Behav 19:383-93. 2010
    ....
  6. ncbi Childhood refractory focal epilepsy following acute febrile encephalopathy
    N Specchio
    Division of Neurology, Clinical Neuropsychology Unit, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Eur J Neurol 18:952-61. 2011
    ..We describe a group of previously normal children who developed severe focal epilepsy after an acute/sub-acute illness resembling encephalitis...
  7. ncbi 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
    ....
  8. ncbi 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...
  9. ncbi Prolonged episode of dystonia and dyskinesia resembling status epilepticus following acute intrathecal baclofen withdrawal
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsy Behav 21:321-3. 2011
    ..Misdiagnosis is possible, and video/EEG monitoring is useful to this end. Although differing among patients, all symptoms are related to overexcitability of the extrapyramidal and autonomic systems...
  10. ncbi Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsia 52:e172-5. 2011
    ..The clinical characteristics of this patient are similar to those reported for FIRES. We believe that female patients with febrile acute-onset epilepsy resembling FIRES are potential PCDH19 mutation carriers...
  11. ncbi 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...
  12. ncbi Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio, Rome, Italy
    Epilepsy Res 88:112-7. 2010
    ..Levetiracetam appeared effective in our series of drug-resistant RTT patients. All reported a reduction in seizure frequency and consequently a better quality of life...
  13. ncbi Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio, 4, 00165 Rome, Italy
    Brain Dev 32:51-6. 2010
    ..More studies need to be addressed to finally define this peculiar epileptic entity...
  14. ncbi Occurrence of a prolonged nonepileptic motor status after a febrile seizure
    Nicola Specchio
    Department of Neuroscience, Bambino Gesu Children s Hospital, Rome, Italy
    Epilepsia 47:1079-81. 2006
    ..We report two cases of nonepileptic prolonged motor status occurring after a simple febrile seizure, erroneously diagnosed as an epileptic status...
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features
    Daniela Longo
    Department of Radiology, Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    J Neuroimaging 21:188-93. 2011
    ..Serial MR imaging studies revealed progressive brain hemispheric signal alterations and atrophy. This would thus suggest acoexistence of PRS and RE...
  18. ncbi Effects of levetiracetam on EEG abnormalities in juvenile myoclonic epilepsy
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital, Roma, Italy
    Epilepsia 49:663-9. 2008
    ..A multicenter, prospective, long-term, open-label study to evaluate the effects of levetiracetam on electroencephalogram (EEG) abnormalities and photoparoxysmal response (PPR) of patients affected by juvenile myoclonic epilepsy (JME)...
  19. ncbi Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean
    Natalia Cannelli
    , 4-00165, Rome, Italy
    Neurogenetics 7:111-7. 2006
    ..The novel missense mutations were not identified in ethnically matched control chromosomes. Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population...
  20. ncbi The spectrum of benign infantile seizures
    Nicola Specchio
    Department of Neuroscience, , Piazza Sant'Onofrio 4, 00165 Roma, Italy
    Epilepsy Res 70:S156-67. 2006
    ....
  21. ncbi Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view
    Colin D Ferrie
    Department of Paediatric Neurology, Leeds General Infirmary, United Kingdom
    Epilepsia 48:1165-72. 2007
    ..To discuss and propose a definition of autonomic status epilepticus (SE), describe its clinical and EEG features, and review what is known about its epidemiology, pathophysiology, differential diagnosis, and management...
  22. ncbi Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genoa, Genoa, Italy
    Epilepsy Behav 10:187-91. 2007
    ..Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling...
  23. ncbi Abnormalities of the contingent negative variation in Huntington's disease: correlations with clinical features
    Marina de Tommaso
    Department of Neurological Sciences, University of Bari, Italy
    J Neurol Sci 254:84-9. 2007
    ..An abnormal activation of the associative cortex devoted to the processing of attention preceding voluntary movement may be supposed in HD, probably mediated by the altered basal ganglia modulation...
  24. ncbi Open label, long-term, pragmatic study on levetiracetam in the treatment of juvenile myoclonic epilepsy
    Luigi Maria Specchio
    Department of Medical and Occupational Sciences, Clinic of the Nervous System Diseases, University of Foggia, Italy
    Epilepsy Res 71:32-9. 2006
    ..Patients with juvenile myoclonic epilepsy (JME) may be resistant or show adverse effects to valproate. We present a multicenter, prospective, long-term, open-label study evaluating the efficacy and safety of levetiracetam in JME...
  25. ncbi A novel SCN2A mutation in family with benign familial infantile seizures
    Pasquale Striano
    Epilepsia 47:218-20. 2006
    ..Additional families with the infantile form of benign familial seizures should be investigated to corroborate that BFIS and BFNIS may share the same genetic abnormality...
  26. ncbi Early modifications of auditory event-related potentials in carriers of the Huntington's disease gene
    Marina de Tommaso
    First Neurologic Clinic, University of Bari, Bari, Italy
    Acta Neurol Belg 103:192-8. 2003
    ....