Lucia Fusco

Summary

Country: Italy

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. doi request reprint Epilepsy in ring 14 chromosome syndrome
    Nicola Specchio
    Neurology Unit, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsy Behav 25:585-92. 2012
  6. 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
  7. doi request reprint 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
  8. 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
  9. doi request reprint Epilepsy in patients with duplications of chromosome 14 harboring FOXG1
    Giuseppe Pontrelli
    Division of Neurology, Bambino Gesu Children s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy Amaducci Neurology Unit, Department of Neuroscience, University of Bari, Bari, Italy
    Pediatr Neurol 50:530-5. 2014
  10. 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

Detail Information

Publications25

  1. 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...
  2. 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...
  3. 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)...
  4. 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...
  5. doi request reprint Epilepsy in ring 14 chromosome syndrome
    Nicola Specchio
    Neurology Unit, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsy Behav 25:585-92. 2012
    ..The reported cases of r(14)-related epilepsy seem to highlight a series of common elements which may be helpful in pointing the clinician towards a correct diagnosis...
  6. 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. ..
  7. doi request reprint 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...
  8. 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...
  9. doi request reprint Epilepsy in patients with duplications of chromosome 14 harboring FOXG1
    Giuseppe Pontrelli
    Division of Neurology, Bambino Gesu Children s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy Amaducci Neurology Unit, Department of Neuroscience, University of Bari, Bari, Italy
    Pediatr Neurol 50:530-5. 2014
    ..FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transcription factor with a role in brain development...
  10. 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)...
  11. 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...
  12. 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
    ....
  13. doi request reprint 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...
  14. doi request reprint 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)...
  15. doi request reprint 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...
  16. 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...
  17. doi request reprint 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...
  18. 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...
  19. doi request reprint 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
    ....
  20. doi request reprint Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia
    Domenico Serino
    Neurology Unit, Bambino Gesu Children s Hospital, Rome, Italy Electronic address
    Eur J Paediatr Neurol 18:416-9. 2014
    ..The clinical and histopathological findings of our reported case lend support to the possible role of inflammation in the pathogenesis of HH/HHE syndrome. ..
  21. doi request reprint 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...
  22. doi request reprint 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...
  23. 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...
  24. ncbi request reprint Epileptic spasms and partial seizures as a single ictal event
    Christa Pachatz
    Department of Neurology, Bambino Gesu Children s Hospital, Piazza S Onofrio 4, 00165 Rome, Italy
    Epilepsia 44:693-700. 2003
    ..To investigate the phenomenon of epileptic spasms (ESs) associated with other seizure types in a single ictal event and to study the predictive value of this phenomenon regarding etiology and prognosis...
  25. ncbi request reprint Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean
    Natalia Cannelli
    Molecular Medicine IRCCS Children Hospital Bambino Gesù Piazza S Onofrio, 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...