Pasquale Striano

Summary

Country: Italy

Publications

  1. doi Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine
    Pasquale Striano
    Department of Neurological Sciences, Federico II University, Napoli, Italy
    J Neurol Sci 272:194-5. 2008
  2. ncbi An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy
    P Striano
    Epilepsy Center, Federico II University, Napoli, Italy
    Neurology 69:250-4. 2007
  3. doi Familial benign nonprogressive myoclonic epilepsies
    Pasquale Striano
    Muscular and Neurodegenerative Diseases Unit, G Gaslini Institute, University of Genova, Genova, Italy
    Epilepsia 50:37-40. 2009
  4. doi Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients
    Alessandro Consales
    Department of Neurosurgery, Gaslini Children s Hospital, Genoa, Italy
    Neurol Sci 31:117-23. 2010
  5. pmc Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument
    Pasquale Parisi
    NESMOS Department, Chair of Paediatrics, Pediatric Headache Centre, Paediatric Sleep, Centre and Child Neurology, Faculty of Medicine and Psychology, Sapienza University c o Sant Andrea Hospital, Via di Grottarossa, 1035 1039 Rome, Italy
    J Headache Pain 15:57. 2014
  6. doi Treating myoclonic epilepsy in children: state-of-the-art
    Pasquale Striano
    University of Genoa, G Gaslini Institute, Maternal and Child Health, Department of Neurosciences, Pediatric Neurology and Muscular Diseases Unit, Rehabilitation, Ophtalmology, Genetics, Genova, Italy
    Expert Opin Pharmacother 14:1355-61. 2013
  7. doi Treatment of myoclonic seizures
    Pasquale Striano
    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy
    Expert Rev Neurother 12:1411-7; quiz 1418. 2012
  8. doi A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome)
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epilepsia 49:425-30. 2008
  9. doi Refractory, life-threatening status epilepticus in a 3-year-old girl
    Pasquale Striano
    Unit of Muscular and Neurodegenerative Diseases, G Gaslini Institute, Genova, Italy
    Lancet Neurol 7:278-84. 2008
  10. ncbi Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genova, Italy
    Epilepsia 48:1092-6. 2007

Detail Information

Publications79

  1. doi Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine
    Pasquale Striano
    Department of Neurological Sciences, Federico II University, Napoli, Italy
    J Neurol Sci 272:194-5. 2008
    ..This is the first report of topiramate-associated worsening symptoms in FHM. It is important to be aware of this phenomenon, as topiramate is worldwide-used drug for migraine treatment...
  2. ncbi An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy
    P Striano
    Epilepsy Center, Federico II University, Napoli, Italy
    Neurology 69:250-4. 2007
    ..To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy of infancy (SMEI)...
  3. doi Familial benign nonprogressive myoclonic epilepsies
    Pasquale Striano
    Muscular and Neurodegenerative Diseases Unit, G Gaslini Institute, University of Genova, Genova, Italy
    Epilepsia 50:37-40. 2009
    ....
  4. doi Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients
    Alessandro Consales
    Department of Neurosurgery, Gaslini Children s Hospital, Genoa, Italy
    Neurol Sci 31:117-23. 2010
    ..We confirm the high risk of macrohemorrhage in pediatric CCs. Surgery is mostly recommended in accessible cavernomas, except for small, asymptomatic deep-seated CCs or for punctuate lesions without bleeding signs...
  5. pmc Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument
    Pasquale Parisi
    NESMOS Department, Chair of Paediatrics, Pediatric Headache Centre, Paediatric Sleep, Centre and Child Neurology, Faculty of Medicine and Psychology, Sapienza University c o Sant Andrea Hospital, Via di Grottarossa, 1035 1039 Rome, Italy
    J Headache Pain 15:57. 2014
    ..We also studied the variability in responses related to the characteristics of eleven Italian neuropediatric centers, showing similarities and differences in the main recommendations reported in CGs...
  6. doi Treating myoclonic epilepsy in children: state-of-the-art
    Pasquale Striano
    University of Genoa, G Gaslini Institute, Maternal and Child Health, Department of Neurosciences, Pediatric Neurology and Muscular Diseases Unit, Rehabilitation, Ophtalmology, Genetics, Genova, Italy
    Expert Opin Pharmacother 14:1355-61. 2013
    ..Nevertheless, patients can be refractory to drug treatment and some drugs may exacerbate or even induce myoclonus...
  7. doi Treatment of myoclonic seizures
    Pasquale Striano
    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy
    Expert Rev Neurother 12:1411-7; quiz 1418. 2012
    ..In the coming years, better understanding of mechanisms of myoclonic seizures and myoclonic epilepsies could result in great improvement of therapy and the quality of life of patients...
  8. doi A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome)
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epilepsia 49:425-30. 2008
    ..Eyelid myoclonia with absences (EMA) or Jeavons syndrome characterized by eyelid myoclonia (EM) (with or without absences), eye closure-induced EEG paroxysms, and photosensitivity. We conducted an open-label trial of levetiracetam in EMA...
  9. doi Refractory, life-threatening status epilepticus in a 3-year-old girl
    Pasquale Striano
    Unit of Muscular and Neurodegenerative Diseases, G Gaslini Institute, Genova, Italy
    Lancet Neurol 7:278-84. 2008
  10. ncbi Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genova, Italy
    Epilepsia 48:1092-6. 2007
    ..To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome)...
  11. doi Gabapentin: a Ca2+ channel alpha 2-delta ligand far beyond epilepsy therapy
    Pasquale Striano
    Epilepsy Center, Federico II University, Naples, Muscular and Neurodegenerative Diseases Unit, G Gaslini Institute, Genoa, Italy
    Drugs Today (Barc) 44:353-68. 2008
    ..This article will review the pharmacology, mechanism of action, drug interactions and adverse effects of gabapentin. In addition, the clinical trial data, cost analysis and recommended schedule of administration, are also reviewed...
  12. ncbi Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epilepsia 48:1995-8. 2007
    ..A correct diagnosis and prompt discontinuation of the drug may reverse a potentially severe, life-threatening condition...
  13. ncbi [Epilepsy genetics and genetic epilepsies]
    P Striano
    Unità Operative Malattie Muscolari e Neurodegenerative, Universitàdi Genova e Istituto G Gaslini, Genova
    Minerva Pediatr 63:217-25. 2011
    ..Neverthless, the clinical implication of this information still has a relatively little impact on the genetic counselling for most of the syndromes...
  14. ncbi Periodic myoclonus due to cytomegalovirus encephalitis in a patient with good syndrome
    Pasquale Striano
    Department of Neurological Science, Federico II University, Via Pansini 5, 80131 Naples, Italy
    Arch Neurol 64:277-9. 2007
    ..Patients may develop severe or chronic infections as a result of this immunodeficiency...
  15. doi (1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy
    Pasquale Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Napoli, Italy
    Epilepsia 50:1491-7. 2009
    ..To investigate the neurochemical pattern in patients with benign adult familial myoclonic epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton magnetic resonance (MR) spectroscopy ((1)H-MRS)...
  16. doi Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures
    Pasquale Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Napoli, Italy
    Epilepsia 50:933-6. 2009
    ..However, despite the availability of reliable biomarkers, early consideration of a pyridoxine trial is still the most important issue in a child with therapy-resistant seizures...
  17. doi Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
    Francesca Madia
    Laboratory of Human Genetics, Galliera Hospitals, Genoa, Italy
    Neurogenetics 9:139-42. 2008
    ..The identification of causative mutations in BAFME requires an extensive and collaborative screening effort...
  18. ncbi Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
    Maria Margherita Mancardi
    Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Institute G Gaslini, Genova, Italy
    Epilepsia 47:1629-35. 2006
    ..We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder...
  19. doi Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization
    Pasquale Striano
    Laboratory of Neurogenetics, Department of Neuroscience, Institute G Gaslini, Largo Gaslini 5, Genoa, Italy
    Arch Neurol 69:322-30. 2012
    ..To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy...
  20. doi Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance
    Federico Zara
    Laboratory of Neurogenetics, Department of Neuroscience, Istituto G Gaslini, Genova, Italy
    Epilepsia 54:425-36. 2013
    ....
  21. doi Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation
    Nune S Yeghiazaryan
    Muscular and Neurodegenerative Disease Unit and Laboratory of Neurogenetics, Institute G Gaslini, University of Genova, Genova, Italy
    Eur J Paediatr Neurol 15:547-50. 2011
    ..Mutations in the antiquitin (ALDH7A1) gene have recently reported to cause PDS in most of patients. We report the long-term follow-up in two PDS siblings carrying a novel ALDH7A1 mutation...
  22. doi Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy
    Antonietta Coppola
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy
    Epilepsia 52:1245-50. 2011
    ..To investigate for the first time the natural history and long-term evolution of "familial cortical tremor, myoclonus, and epilepsy."..
  23. ncbi Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy
    Pasquale Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Naples, Italy
    Epilepsia 46:1993-5. 2005
    ..5 years of follow-up. Genetic study of the pedigree revealed a significant linkage on chromosome 2p (maximum lod score = 5.9). Further observations are needed to clarify the pathophysiology of this condition...
  24. ncbi Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
    Elena Gennaro
    Laboratory of Muscle Pathology and Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Italy
    Biochem Biophys Res Commun 341:489-93. 2006
    ..The identification of germline mosaicisms has important consequences in genetic counseling of SMEI when SCN1A mutations appear to occur de novo with standard screening methods...
  25. doi Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions?
    Salvatore Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epilepsia 50:15-9. 2009
    ....
  26. ncbi Clinical spectrum and critical care management of Posterior Reversible Encephalopathy Syndrome (PRES)
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy
    Med Sci Monit 11:CR549-53. 2005
    ..Even if usually reversible, PRES can sometimes result in death or irreversible neurological deficit, such as chronic epilepsy...
  27. ncbi Levetiracetam for cerebellar tremor in multiple sclerosis: an open-label pilot tolerability and efficacy study
    Pasquale Striano
    Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy
    J Neurol 253:762-6. 2006
    ..Disabling tremor is frequent in multiple sclerosis (MS) and its treatment remains challenging. We conducted an open-label trial to evaluate the effect of levetiracetam (LEV) to treat cerebellar tremor in MS patients...
  28. ncbi Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences Federico II University, Via Pansini 5, 80131, Napoli, Italy
    J Neurol 255:16-23. 2008
    ..The genetics of this condition is largely unknown.We present the electroclinical and genetic findings of 15 MTLE Italian families...
  29. ncbi Antiepileptic drugs and MTHFR polymorphisms influence hyper-homocysteinemia recurrence in epileptic patients
    Vincenzo Belcastro
    Department of Neurosciences, of Psychiatric and Anaesthesiological Sciences, First Neurology Clinic, University of Messina, Messina, Italy
    Epilepsia 48:1990-4. 2007
    ..9%) exhibited hyper-tHcy, the greater proportion belonging to the EI-AED-MTHFR677TT/1298AA (39%). Knowledge of the hyper-tHcy recurrence time after folate therapy discontinuation may help in optimizing folate supplementation pulses...
  30. doi Epilepsy associated with supratentorial brain tumors under 3 years of life
    Roberto Gaggero
    Department of Neurosciences, Gaslini Children s Hospital, Genoa, Italy
    Epilepsy Res 87:184-9. 2009
    ..To investigate the clinical features and outcome of epilepsy in children under 3 years of age with supratentorial brain tumors...
  31. doi A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy
    Pasquale Striano
    Muscular and Neurodegenerative Diseases Unit, Institute G Gaslini, University of Genoa, Genoa, Italy
    Arch Neurol 65:939-42. 2008
    ..Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene...
  32. doi The syndrome gelastic seizures-hypothalamic hamartoma: severe, potentially reversible encephalopathy
    Salvatore Striano
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    Epilepsia 50:62-5. 2009
    ..Surgical ablation of the HH can reverse both epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery can be useful and safe approaches for treatment, in particular of small HH...
  33. doi Ictal EEG patterns in epilepsy with centro-temporal spikes
    Giuseppe Capovilla
    Epilepsy Center, Department of Child Neuropsychiatry, C Poma Hospital, Mantova, Italy
    Brain Dev 33:301-9. 2011
    ..To describe the EEG pattern of seizures in patients with benign childhood epilepsy with centro-temporal spikes (BCECTS)...
  34. ncbi Eyelid myoclonia with absences: an overlooked epileptic syndrome?
    Salvatore Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, Naples, Italy
    Neurophysiol Clin 32:287-96. 2002
    ..In addition, to examine some possible causes of underdiagnosis and to stress the role of video-EEG (VEEG) recording...
  35. doi Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion
    Antonietta Coppola
    Epilepsy Center, Neurology Department, Federico II University of Naples, Naples, Italy
    Epilepsia 54:e69-73. 2013
    ..The importance of studying such families is crucial to broaden the phenotype and understand the long-term outcome of patients with this condition...
  36. ncbi Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families
    Pasquale Striano
    Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Genova, and Division of Neurology, Ospedale Pediatrico Bambino Gesu, Roma, Italy
    Epilepsia 47:1029-34. 2006
    ..Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis...
  37. ncbi Posterior reversible encephalopathy syndrome in intensive care medicine
    Giuseppe Servillo
    Medical Intensive Care Unit, Department of Surgical and Anesthesiological Sciences, Naples, Italy
    Intensive Care Med 33:230-6. 2007
    ..Delay in the diagnosis and treatment may in fact results in death or in irreversible neurological sequelae...
  38. ncbi Inherited neuromyotonia: a clinical and genetic study of a family
    Antonio Falace
    Neuromuscular and Neurodegenerative Disease Unit, University of Genova, G Gaslini Institute, Genova, Italy
    Neuromuscul Disord 17:23-7. 2007
    ..Further studies of familial cases will shed light on the molecular basis of inherited neuromyotonia...
  39. ncbi Levetiracetam in patients with cortical myoclonus: a clinical and electrophysiological study
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    Mov Disord 20:1610-4. 2005
    ..Levetiracetam is a promising and a relatively easy-to-test antimyoclonic agent, which has the potential to improve significantly the patient's disability; however, its long-term efficacy should be verified in larger controlled studies...
  40. ncbi Suppression of myoclonus in SCA2 by piracetam
    Anna De Rosa
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Mov Disord 21:116-8. 2006
    ..Piracetam may be considered in the treatment of refractory myoclonus in spinocerebellar degenerations...
  41. doi Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures
    Nune S Yeghiazaryan
    Armenian Republican Epilepsy Centre Erebouni, Yerevan State Medical University, Yerevan, Armenia
    J Paediatr Child Health 48:E113-5. 2012
    ..However, early consideration of a pyridoxine trial remains the most important issue in a neonate or in an infant with intractable early onset seizures...
  42. ncbi The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome
    Salvatore Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy
    Seizure 14:232-9. 2005
    ..To delineate the clinical spectrum and patterns of evolution of epilepsy with gelastic seizures related to hypothalamic hamartoma (HH)...
  43. doi A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms
    Antonietta Coppola
    Epilepsy Center, Neurology Department, Federico II University, Via Pansini 5, 80131 Naples, Italy
    Brain Dev 32:248-52. 2010
    ..The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed...
  44. pmc Progressive myoclonic epilepsies: definitive and still undetermined causes
    Silvana Franceschetti
    From the Department of Neurophysiopathology and Epilepsy Centre S F, L C, e V, F P, G A, IRCCS Foundation C Besta Neurological Institute, Milan Unit of Neurology R M, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna Pediatric Neurology and Muscular Diseases Unit P S, DINOGMI Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute Department of Medical and Surgical Sciences A G, E F, Magna Graecia University, Catanzaro Institute of Neurological Sciences A G, National Research Council, Mangone, Cosenza Epilepsy Centre A M, Department of Neuroscience, University of Messina IRCCS Institute of Neurological Sciences and Department of Biomedical and Neuromotor Sciences P T, University of Bologna Epilepsy Centre A L N, Azienda Ospedaliero Universitaria Consorziale, Dipartimento di Scienze Mediche di Base, Neuroscienze ed Organi di Senso, Policlinico, Bari Child Neurology Unit G G, IRCCS delle Scienze Neurologiche, Bologna Department of Neurology and Psychiatry A T G, Neurology Unit, La Sapienza University, Germany
    Neurology 82:405-11. 2014
    ..To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy...
  45. doi Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature
    Marianna Pezzella
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, Genova, Italy
    Seizure 19:132-5. 2010
    ..The literature data about the electroclinical features of epilepsy in GMS are also reviewed...
  46. doi The gelastic seizures-hypothalamic hamartoma syndrome: facts, hypotheses, and perspectives
    Salvatore Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epilepsy Behav 24:7-13. 2012
    ..Here, we review this topic, based on literature reports and our personal observations. In addition, we discuss pathogenetic hypotheses and suggest new approaches to this intriguing issue...
  47. ncbi Lateralizing value of the auditory aura in partial seizures
    Irene Florindo
    Department of Neurological Sciences, University of Bologna, Bologna, Italy
    Epilepsia 47:68-72. 2006
    ..To describe the semiological features of auditory aura and to assess their possible lateralizing value in partial epilepsy...
  48. ncbi Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome
    Pasquale Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, 80131 Naples, Italy
    Seizure 13:582-6. 2004
    ..In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been rarely described...
  49. pmc White matter involvement in a family with a novel PDGFB mutation
    Roberta Biancheri
    Dubowitz Neuromuscular Service R B, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom Unit of Neuroradiology M S, Laboratorio di Neurogenetica e Neuroscienze A R, M I, F Z, G Gaslini Institute, Genova, Italy Neurology Unit M D S, E O Galliera Hospital, Genova, Italy Pediatric Neurology and Muscular Diseases Unit C M, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy and Department of Advanced Biomedical Sciences M C, M D B D C, Federico II University, Naples, Italy
    Neurol Genet 2:e77. 2016
    ..1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5). ..
  50. doi DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy
    Pasquale Striano
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G Gaslini Institute, University of Genoa, Genova, Italy
    Epilepsia 56:e168-71. 2015
    ..In total, we found a single DEPDC5 mutation in one of (2.2%) 45 families with genetic temporal lobe epilepsy, a proportion much lower than that reported in other inherited focal epilepsies. ..
  51. doi Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
    Nicola Vanni
    Department of Neuroscience, Institute G Gaslini, Genoa, Italy
    Ann Neurol 76:206-12. 2014
    ..Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders...
  52. 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...
  53. doi Severe pulmonary congestion in a near miss at the first seizure: further evidence for respiratory dysfunction in sudden unexpected death in epilepsy
    Marianna Pezzella
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Naples, Italy
    Epilepsy Behav 14:701-2. 2009
    ..Moreover, this observation confirms that SUDEP is not exclusively an issue for patients with chronic, uncontrolled epilepsy...
  54. doi Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity
    Luca Errichiello
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, Naples, Italy
    Neurol Sci 32:547-50. 2011
    ..The clinical and pathogenetic relationship of this association is discussed. This link may have important therapeutic implications and merits additional clinical and laboratory research...
  55. ncbi Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
    Pasquale Striano
    Neuromuscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genova, Genova, Italy
    Am J Med Genet A 140:1944-9. 2006
    ..The awareness of the distinctive clinical picture will help in the diagnosis of this chromosomal abnormality...
  56. ncbi Relationship between serum mono-hydroxy-carbazepine concentrations and adverse effects in patients with epilepsy on high-dose oxcarbazepine therapy
    Salvatore Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy
    Epilepsy Res 69:170-6. 2006
    ..To investigate the relationship between the serum concentration of the mono-hydroxy-derivative (MHD) of oxcarbazepine (OXC) and adverse effects (AEs) in epileptic patients on high-dose OXC therapy...
  57. doi Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients
    Luca Errichiello
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    J Neuroimmunol 211:120-3. 2009
    ..We aimed to determine the occurrence of GADA in a large series of patients with different epilepsy types. Moreover, we assessed whether specific subgroups of patients are associated to GAD autoimmunity...
  58. ncbi Posterior reversible encephalopathy syndrome (PRES) in critically ill obstetric patients
    Giuseppe Servillo
    Medical Intensive Care Unit, Department of Surgical and Anesthesiological Sciences, Federico II University, Via Pansini 5, Naples, Italy
    Intensive Care Med 29:2323-6. 2003
    ..To describe clinical, neuroradiological and evolutionary findings in obstetric patients with posterior reversible encephalopathy syndrome (PRES)...
  59. doi No major role for the EMX2 gene in schizencephaly
    Elisa Merello
    Department of Neurosurgery, Gaslini Institute, Genoa, Italy
    Am J Med Genet A 146:1142-50. 2008
    ..We conclude that the reported association between SCH and EMX2 mutations is not adequately supported by current data, and that diagnostic testing of EMX2 is not justified, as any results would be uninterpretable...
  60. ncbi Limited place for plasma monitoring of new antiepileptic drugs in clinical practice
    Salvatore Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Napoli, Italy
    Med Sci Monit 14:RA173-8. 2008
    ..For some new AEDs, TDM could be selectively and properly used in response to a single patient-specific pharmacokinetic or pharmacodynamic issue...
  61. ncbi A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy
    Epilepsia 45:190-2. 2004
    ..1-2q12.2 (lod score value, 1.55). This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1-q12.2...
  62. ncbi Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy
    Pasquale Striano
    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy Neurology Unit, Sant Anna Hospital, Como, Italy and Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
    Clin Neuropharmacol 39:281-287. 2016
    ....
  63. doi Safety of Overnight Switch from Brand-Name to Generic Levetiracetam
    Maria Stella Vari
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy
    Clin Drug Investig 36:87-91. 2016
    ..The objective of this study was to evaluate the safety and tolerability of the brand-to-generic levetiracetam switch in patients with focal or generalized epilepsy...
  64. doi Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy
    Antonietta Coppola
    Epilepsy Centre, Department of Neuroscience, Odontostomatology and Reproductive Sciences, Federico II University, Naples, Italy Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy Electronic address
    Epilepsy Behav 56:38-43. 2016
    ..The objective of this report was to assess the psychiatric comorbidity in a group of patients affected by autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME)...
  65. doi Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction
    Mariasavina Severino
    Neuroradiology Unit, Istituto Giannina Gaslini, Via Gaslini 5, 16147, Genova, Italy
    Neuroradiology 58:33-44. 2016
    ..We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning...
  66. doi A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability
    Francesco Miceli
    Unit of Pharmacology, Department of Neuroscience, Reproductive Science and Dentistry, University of Naples Federico II, Naples, Italy
    Epilepsia 56:e15-20. 2015
    ....
  67. doi Periventricular nodular heterotopia in Smith-Magenis syndrome
    Valeria Capra
    Neurosurgery Unit, Istituto Giannina Gaslini, 16147 Genova, Genoa, Italy
    Am J Med Genet A 164:3142-7. 2014
    ..Our observations expand the spectrum of chromosomal rearrangements associated with PNH and indicate that abnormal neuronal migration may contribute to the neurocognitive phenotype of SMS...
  68. doi Genetic epileptic encephalopathies: is all written into the DNA?
    Pasquale Striano
    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, Institute G Gaslini, University of Genova, Genoa, Italy
    Epilepsia 54:22-6. 2013
    ..Data from the laboratory and the clinics may provide greater insight into the degree to which epileptic activity may contribute to cognitive impairment in individual syndromes. ..
  69. doi Magnetic resonance imaging "tigroid pattern" in Alexander disease
    Roberta Biancheri
    Department of Neuroscience, Istituto G Gaslini, Genova, Italy
    Neuropediatrics 44:174-6. 2013
    ..This pattern has been previously described in only a few different neurologic conditions, including Pelizaeus-Merzbacher disease and some lysosomal disorders. This report expands the spectrum of MRI features in AD...
  70. doi Reflex seizures and reflex epilepsies: old models for understanding mechanisms of epileptogenesis
    Salvatore Striano
    Epilepsy Centre, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epilepsy Res 100:1-11. 2012
    ..g., fMRI-EEG co-registration) offer a unique non-invasive opportunity to investigate cortical areas and brain networks involved in cerebral functions and in epileptic discharges...
  71. doi Posterior cortical atrophy with prominent alexia without agraphia in a Tourette syndrome
    Nina Antonetta Fragassi
    Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy
    Neurol Sci 32:1129-33. 2011
    ..This case fulfils the diagnostic criteria of posterior cortical atrophy (PCA). The possible link between TS and PCA is discussed...
  72. ncbi Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: one case report
    Salvatore Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy
    Clin Neurol Neurosurg 108:56-9. 2005
    ..We report a Turner patient showing severe neurological impairment, refractory epilepsy and MRI finding of bilateral perisylvian hypoplasia. The possible dysgenetic role of X-chromosome on cortical morphogenesis is also discussed...
  73. ncbi Small hypothalamic hamartomas and gelastic seizures
    Salvatore Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, Naples, Italy
    Epileptic Disord 4:129-33. 2002
    ..To describe the clinical history of patients with gelastic seizures (GSs) related to small-size hypothalamic hamartomas (HHs), and to show some of these unusual seizures...
  74. pmc Epileptic seizures can follow high doses of oral vardenafil
    Pasquale Striano
    Department of Neurological Sciences, Federico II University, Napoli, Via Pansini, 80131, Napoli, Italy
    BMJ 333:785. 2006
  75. ncbi Tiagabine in glial tumors
    Salvatore Striano
    Department of Neurological Sciences, Epilepsy Center, Federico II University, Naples, Italy
    Epilepsy Res 49:81-5. 2002
    ..This efficacy should be related to selective blocking of GAT-1 transporter by TGB. We presented our open-label, add-on TGB experience in a group of patients with GTs, compared with other symptomatic DRPEs of different aetiology...
  76. ncbi Children grow-up
    Pasquale Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epileptic Disord 10:71-2. 2008
  77. doi New and investigational antiepileptic drugs
    Pasquale Striano
    Muscular and Neurodegenerative Diseases Unit, Institute G Gaslini, Genova, Italy
    Expert Opin Investig Drugs 18:1875-84. 2009
    ..This paper reviews the available information on various classes of molecules that are in the pipeline as well as on the innovative approaches to the treatment of epilepsy...
  78. ncbi Long-term evolution of EEG in Unverricht-Lundborg disease
    Edoardo Ferlazzo
    Centre for the Diagnosis and Care of Epilepsy, Department of Neurosciences, Psychiatric and Anaestesiological Sciences, University of Messina, Italy
    Epilepsy Res 73:219-27. 2007
    ..Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and ataxia, without major cognitive decline. There is no systematic study on the long-term evolution of EEG in this condition...
  79. ncbi Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation
    Giovanni Coppola
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy
    J Neurol 252:897-900. 2005
    ..The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded...