S Grosso

Summary

Affiliation: University of Siena
Country: Italy

Publications

  1. doi request reprint Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy
    Salvatore Grosso
    Child Neurology Immunology and Endocrinology Unit, University of Siena, Italy Department of Pediatrics, University of Siena, Italy Electronic address
    Eur J Paediatr Neurol 18:55-9. 2014
  2. doi request reprint Management of status dystonicus in children. Cases report and review
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, Gynecology, and Reproductive Medicine, Pediatric Neurology Unit, S Maria alle Scotte Hospital, University of Siena, 53100 Siena, Italy
    Eur J Paediatr Neurol 16:390-5. 2012
  3. doi request reprint A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Viale M Bracci, Le Scotte, Siena, Italy
    Epilepsy Res 81:80-5. 2008
  4. ncbi request reprint Intractable reflex audiogenic seizures in Aicardi syndrome
    S Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy
    Brain Dev 29:243-6. 2007
  5. doi request reprint Late-onset childhood occipital epilepsy (Gastaut type): a family study
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena Santa Maria alle Scotte Hospital, Siena, Italy
    Eur J Paediatr Neurol 12:421-6. 2008
  6. doi request reprint Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation
    Salvatore Grosso
    Department of Paediatrics, Paediatric Neurology Section, University of Siena, Siena, Italy
    Dev Med Child Neurol 50:473-6. 2008
  7. ncbi request reprint Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis
    S Grosso
    Department of Pediatrics, University of Siena, Italy
    Scand J Clin Lab Invest 64:57-62. 2004
  8. doi request reprint Topiramate effects on plasma serotonin levels in children with epilepsy
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy
    Epilepsy Res 81:148-54. 2008
  9. doi request reprint Efficacy and safety of felbamate in children under 4 years of age: a retrospective chart review
    S Grosso
    Pediatric Neurology Section, Department of Pediatrics, University of Siena, Siena, Italy
    Eur J Neurol 15:940-6. 2008
  10. doi request reprint Body mass index and serum lipid changes during treatment with valproic acid in children with epilepsy
    Salvatore Grosso
    Pediatric Neurology Section, Department of Pediatrics, Obstetrics, Gynecology and Reproductive Medicine, University of Siena, Siena, Italy
    Ann Pharmacother 43:45-50. 2009

Collaborators

Detail Information

Publications60

  1. doi request reprint Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy
    Salvatore Grosso
    Child Neurology Immunology and Endocrinology Unit, University of Siena, Italy Department of Pediatrics, University of Siena, Italy Electronic address
    Eur J Paediatr Neurol 18:55-9. 2014
    ..Lacosamide is effective and well-tolerated antiepileptic drug (AED) in both children and adults...
  2. doi request reprint Management of status dystonicus in children. Cases report and review
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, Gynecology, and Reproductive Medicine, Pediatric Neurology Unit, S Maria alle Scotte Hospital, University of Siena, 53100 Siena, Italy
    Eur J Paediatr Neurol 16:390-5. 2012
    ..The approach is empiric and based on very limited anecdotal reports. On the basis of our observations and an extensive review of the literature we delineated a possible therapeutic strategy of SD in children...
  3. doi request reprint A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Viale M Bracci, Le Scotte, Siena, Italy
    Epilepsy Res 81:80-5. 2008
    ..Deflazacort should be considered in the therapeutic armamentarium for epileptic encephalopathies. The drug is as effective as hydrocortisone and may be used in therapy for a long period, with a less worrying adverse-effect profile...
  4. ncbi request reprint Intractable reflex audiogenic seizures in Aicardi syndrome
    S Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy
    Brain Dev 29:243-6. 2007
    ..From our report, the context of these patterns should be extended to include reflex audiogenic seizures...
  5. doi request reprint Late-onset childhood occipital epilepsy (Gastaut type): a family study
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena Santa Maria alle Scotte Hospital, Siena, Italy
    Eur J Paediatr Neurol 12:421-6. 2008
    ..Of course, the identification of larger families is propaedeutic to linkage analysis studies...
  6. doi request reprint Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation
    Salvatore Grosso
    Department of Paediatrics, Paediatric Neurology Section, University of Siena, Siena, Italy
    Dev Med Child Neurol 50:473-6. 2008
    ..It remains to be established whether this peculiar neuronal migration disorder represents a phenotype totally linked to 17q13.3 deletion or results from a combination of gene defects at 17q13.3 and 12q24.3...
  7. ncbi request reprint Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis
    S Grosso
    Department of Pediatrics, University of Siena, Italy
    Scand J Clin Lab Invest 64:57-62. 2004
    ..Chitotriosidase is involved in defense against, and in degradation of chitin-containing pathogens such as fungi, nematodes, and insects...
  8. doi request reprint Topiramate effects on plasma serotonin levels in children with epilepsy
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy
    Epilepsy Res 81:148-54. 2008
    ..Further studies are needed to establish whether these serotonin plasma changes represent an epiphenomenon or indicate direct effects of TPM on the serotoninergic system...
  9. doi request reprint Efficacy and safety of felbamate in children under 4 years of age: a retrospective chart review
    S Grosso
    Pediatric Neurology Section, Department of Pediatrics, University of Siena, Siena, Italy
    Eur J Neurol 15:940-6. 2008
    ..To review our experience of the efficacy and tolerability of felbamate in children younger than 4 years...
  10. doi request reprint Body mass index and serum lipid changes during treatment with valproic acid in children with epilepsy
    Salvatore Grosso
    Pediatric Neurology Section, Department of Pediatrics, Obstetrics, Gynecology and Reproductive Medicine, University of Siena, Siena, Italy
    Ann Pharmacother 43:45-50. 2009
    ..Although weight gain is a well-known adverse effect of valproic acid therapy, only a few studies have addressed weight gain associated with it in children aged 2-8 years...
  11. ncbi request reprint Seizures and electroencephalographic findings in CDKL5 mutations: case report and review
    S Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Santa Maria alle Scotte Hospital, 53100 Siena, Italy
    Brain Dev 29:239-42. 2007
    ..A screen for CDKL5 mutations is useful in patients, mainly females, with a history of early onset intractable seizures and becomes mandatory when idiopathic infantile spasms and/or atypical Rett syndrome features are also present...
  12. doi request reprint Postictal serum nucleotidases activities in patients with epilepsy
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena, Italy
    Epilepsy Res 84:15-20. 2009
    ..However, it is possible to hypothesize that the higher nucleotidase activity might play a role in the modulation of epileptic events...
  13. doi request reprint Oxidative stress in children affected by epileptic encephalopathies
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, Gynecology and Reproductive Medicine, University of Siena, Viale M Bracci, 53100, Siena, Italy
    J Neurol Sci 300:103-6. 2011
    ..Our study showed that patients with epileptic encephalopathy have increased levels of oxidative stress markers. By contrast, normal redox status was observed in patients with idiopathic epilepsy syndromes under long-term VPA monotherapy...
  14. doi request reprint Circulating levels of allopregnanolone, a neuroactive steroid, and leptin during treatment with valproic acid in children with epilepsy
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, Gynecology and Reproductive Medicine, Pediatric Neurology Section, University of Siena, Siena, Italy
    Neuroendocrinology 93:159-64. 2011
    ....
  15. ncbi request reprint Photoparoxysmal responses in children with chromosomal aberrations
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M Bracci, 53100 Siena, Italy
    Epilepsy Res 72:164-70. 2006
    ..In these patients, PPR might occur early in life, persist into adulthood, and is commonly inscribed in more polymorphic electroclinical patterns...
  16. doi request reprint Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy
    Salvatore Grosso
    Department of Pediatrics, Gynecology, Obstetrics, and Reproductive Medicine, Pediatric Neurology Section, University of Siena, Italy
    Eur J Paediatr Neurol 15:456-60. 2011
    ..Moreover, a review of the literature and our observations seem to suggest that focal epilepsies, likely related to the temporal lobe in the present family, represent the main type of epilepsy occurring in children with FSHD...
  17. doi request reprint 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
    ..No epilepsy or EEG anomalies were detected in the remaining patients...
  18. ncbi request reprint Aicardi syndrome with favorable outcome: case report and review
    S Grosso
    Pediatrics Department, Pediatric Neurology Section, University of Siena, S Maria alle Scotte Hospital, 53100 Siena, Italy
    Brain Dev 29:443-6. 2007
    ..Therefore, the clinical picture of the syndrome is broader than originally described. Cognitive disorders should not be considered inevitable and the prognosis not ineludibly poor...
  19. ncbi request reprint Efficacy and safety of topiramate in infants according to epilepsy syndromes
    S Grosso
    Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Via M Bracci, Le Scotte 53100, Siena, Italy
    Seizure 14:183-9. 2005
    ..The present study concludes that TPM is effective for a broad range of seizures in infants and young children and represents a valid therapeutic option in this population...
  20. doi request reprint Levetiracetam monotherapy for childhood occipital epilepsy of gastaut
    A Verrotti
    Department of Paediatrics, University of Chieti, Chieti, Italy
    Acta Neurol Scand 120:342-6. 2009
    ..The aim of this open label pilot study was to evaluate the efficacy and tolerability of levetiracetam (LEV) as 'de novo' monotherapy in children and adolescents with late onset childhood occipital epilepsy-Gastaut type (COE-G)...
  21. ncbi request reprint Efficacy and safety of levetiracetam in infants and young children with refractory epilepsy
    S Grosso
    Pediatrics Department, University of Siena, Italy
    Seizure 16:345-50. 2007
    ..We conclude that LEV is safe and effective for a wide range of epileptic seizures and epilepsy syndromes and, therefore, represents a valid therapeutic option in infants and young children affected by epilepsy...
  22. ncbi request reprint Pubertal disorders in inv dup(15) syndrome
    S Grosso
    Department of Pediatrics, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy
    Gynecol Endocrinol 15:165-9. 2001
    ..Moreover, our observations confirm that a karyotype analysis in patients in whom precocious puberty is associated with mental retardation is mandatory...
  23. ncbi request reprint Chromosome 18 aberrations and epilepsy: a review
    S Grosso
    Department of Pediatrics, University of Siena, Siena, Italy
    Am J Med Genet A 134:88-94. 2005
    ..While further EEG/clinical investigations are needed to validate these observations, this study indicates a possible relationship between chromosome 18 genes and epilepsy...
  24. ncbi request reprint Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder?
    S Grosso
    Department of Pediatrics, University of Siena, Viale M Bracci, Le Scotte, 53100 Siena, Italy
    Neurosurgery 49:1099-103; discussion 1103-4. 2001
    ..The aim of the present study is to elucidate the relationship between Chiari I malformation and mental retardation, speech delay, and epilepsy to consider a possible specific pathogenetic background...
  25. ncbi request reprint Levetiracetam monotherapy for children and adolescents with benign rolandic seizures
    A Verrotti
    Department of Pediatrics, University of Chieti, Policlinico Universitario, Via dei Vestini 5, 66100 Chieti, Italy
    Seizure 16:271-5. 2007
    ..5%) patients. Our results support findings that LEV monotherapy is effective and well tolerated in children with BECTS. Prospective, large, long-term double-blind studies are needed to confirm these findings...
  26. ncbi request reprint Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity?
    S Grosso
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Siena, Italy
    Am J Med Genet A 124:192-5. 2004
    ..These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development...
  27. ncbi request reprint Efficacy and safety of levetiracetam: an add-on trial in children with refractory epilepsy
    S Grosso
    Pediatrics Department, University of Siena, Ospedale Santa Maria alle Scotte, Via M Bracci, 53100 Siena, Italy
    Seizure 14:248-53. 2005
    ..Our preliminary data also indicate that levetiracetam may be a valid therapeutic option for epilepsy in infants and young children...
  28. ncbi request reprint Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria
    R Vivarelli
    Department of Clinical Pediatrics, University of Siena, Viale M. Bracci, Le Scotte, 53100, Siena, Italy
    Brain Dev 23:18-23. 2001
    ..Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal microcephaly and cerebral calcification is necessary since an early diagnosis may allow adequate genetic counseling to the families...
  29. ncbi request reprint Malformations of cortical development in neurofibromatosis type 1
    P Balestri
    Department of Pediatrics, University of Siena, Le Scotte, Italy
    Neurology 61:1799-801. 2003
    ..Because all of these lesions result from different pathogenetic mechanisms, neurofibromin may play a role during several stages of cortical development...
  30. doi request reprint A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
    M Pollazzon
    Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
    Eur J Med Genet 52:131-3. 2009
    ..Two genes, OPA1 and CCDC50, responsible for autosomal dominant optic atrophy and deafness, respectively, may be important for the correct follow-up of the patient...
  31. ncbi request reprint SCN1A mutation associated with atypical Panayiotopoulos syndrome
    S Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, S Maria alle Scotte Hospital, Siena, Italy
    Neurology 69:609-11. 2007
  32. ncbi request reprint Oxcarbazepine and atypical evolution of benign idiopathic focal epilepsy of childhood
    S Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena, Italy
    Eur J Neurol 13:1142-5. 2006
    ..We suggest that OXC should be included in the list of drugs that may cause electroclinical deterioration in these patients...
  33. ncbi request reprint Endocrine disorders in two sisters affected by MELAS syndrome
    P Balestri
    Department of Pediatrics, University of Siena, Italy
    J Child Neurol 15:755-8. 2000
    ....
  34. ncbi request reprint Multiple neuroendocrine disorder in Salla disease
    S Grosso
    Department of Pediatrics, University of Siena, Italy
    J Child Neurol 16:775-7. 2001
    ..Therefore, a complete endocrinologic evaluation of these patients is both warranted and useful...
  35. ncbi request reprint Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
    S Grosso
    Department of Pediatrics, University of Siena, Siena, Italy
    Am J Med Genet 111:182-6. 2002
    ..Genetic studies will clarify if these patients represent a unique phenotypic expression of ARS or constitute the clinical presentation of a new genetic syndrome...
  36. ncbi request reprint Childhood absence epilepsy: evolution and prognostic factors
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena, Italy
    Epilepsia 46:1796-801. 2005
    ..To evaluate how diagnostic criteria influence remission rates for patients with childhood absence epilepsy (CAE) and to assess clinical and EEG parameters as predictors of outcome...
  37. ncbi request reprint Chitotriosidase activity in the serum of patients with sarcoidosis and pulmonary tuberculosis
    Elena Bargagli
    Department of Clinical Medicine and Immunology, Respiratory Diseases Section, University of Siena, Siena, Italy
    Respiration 74:548-52. 2007
    ..Human chitotriosidase is a chitinase selectively expressed by activated macrophages. An increase in chitotriosidase activity was previously described by us in the serum and bronchoalveolar lavage of sarcoidosis patients...
  38. doi request reprint Chitotriosidase and soluble IL-2 receptor: comparison of two markers of sarcoidosis severity
    Elena Bargagli
    Department of Clinical Medicine and Immunology, Respiratory Diseases Section, Siena University, Italy
    Scand J Clin Lab Invest 68:479-83. 2008
    ..Sarcoidosis is a multisystemic granulomatous disease with an unpredictable clinical course characterized by accumulation of activated proliferating T lymphocytes and mononuclear phagocytes in affected organs...
  39. ncbi request reprint Chitotriosidase activity in patients with interstitial lung diseases
    Elena Bargagli
    Respiratory Diseases Section, Department of Clinical Medicine and Immunology, Siena University, Italy
    Respir Med 101:2176-81. 2007
    ....
  40. ncbi request reprint Chitotriosidase analysis in bronchoalveolar lavage of patients with sarcoidosis
    Elena Bargagli
    Respiratory Diseases Section, Department of Clinical Medicine and Immunology, Le Scotte Hospital, Viale Bracci 53100 Siena, Italy
    Sarcoidosis Vasc Diffuse Lung Dis 24:59-64. 2007
    ..Human chitotriosidase is involved in the pathogenesis of many lysosomal storage disorders and is selectively expressed in chronically activated tissue macrophages...
  41. ncbi request reprint Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study
    N De Stefano
    Neurometabolic Unit, University of Siena, Italy
    J Neurol 248:403-9. 2001
    ..This suggests that, despite the apparently mild clinical course, a severe neurodegenerative process may occur in the white matter of these patients...
  42. ncbi request reprint 2q24-q31 deletion: report of a case and review of the literature
    C Pescucci
    Medical Genetics, University of Siena, Italy
    Eur J Med Genet 50:21-32. 2007
    ..In particular, a cluster of SCNA genes is located within the deleted region and it is known that loss of function mutations in SCNA1 gene cause a severe form of epilepsy...
  43. ncbi request reprint Hot water epilepsy and focal malformation of the parietal cortex development
    Salvatore Grosso
    Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M Bracci, Le Scotte, 53100 Siena, Italy
    Brain Dev 26:490-3. 2004
    ..Moreover, the authors believe that MRI examination should be considered for this group of patients...
  44. ncbi request reprint Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up study
    Salvatore Grosso
    Pediatrics Department, University of Siena, Siena, Italy
    J Child Neurol 20:893-7. 2005
    ..Moreover, preliminary data seem to suggest that the efficacy of topiramate, when evaluated in the long-term perspective, is more sustained in localization-related epilepsy than in generalized epilepsy...
  45. ncbi request reprint Plasmapheresis in a child affected by acute disseminated encephalomyelitis
    P Balestri
    Institute of Clinical Pediatrics, University of Siena, Via M Bracci, Le Scotte, 53100, Siena, Italy
    Brain Dev 22:123-6. 2000
    ..The long term follow-up suggests that plasmapheresis is effective in this disorder and may give better results than steroids or IVIG...
  46. ncbi request reprint Post-ictal circulating levels of allopregnanolone in children with partial or generalized seizures
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M Bracci, Le Scotte, 53100 Siena, Italy
    Epilepsy Res 63:97-102. 2005
    ..In the present study we investigated the post-ictal serum allopregnanolone levels in children with partial seizures and generalized seizures, respectively...
  47. ncbi request reprint Inter-ictal and post-ictal circulating levels of allopregnanolone, an anticonvulsant metabolite of progesterone, in epileptic children
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M Bracci, Le Scotte, Siena 53100, Italy
    Epilepsy Res 54:29-34. 2003
    ..It is possible that increased post-ictal serum levels of allopregnanolone may play a role in modulating neuronal excitability and may represent an endogenous mechanism of seizure control...
  48. ncbi request reprint Electroencephalographic and epileptic patterns in X chromosome anomalies
    Salvatore Grosso
    Department of Pediatrics, University of Siena, Siena, Italy
    J Clin Neurophysiol 21:249-53. 2004
    ..Although further studies are needed to validate these observations, they clearly confirm the strict relationship between X chromosome anomalies and epilepsy...
  49. ncbi request reprint Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia
    Salvatore Grosso
    Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M Bracci Le scotte, 53100 Siena, Italy
    Am J Med Genet A 120:88-91. 2003
    ..In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus...
  50. ncbi request reprint Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12
    Salvatore Grosso
    Department of Pediatrics, University of Siena, Siena, Italy
    J Child Neurol 19:604-8. 2004
    ....
  51. ncbi request reprint Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M Bracci Le scotte, 53100 Siena, Italy
    J Neurol 249:596-600. 2002
    ..Finally, we report a dramatic positive response of the patient with dyskinesia/dystonia to levodopa treatment, and discuss the associated physiopathological implications...
  52. ncbi request reprint Schinzel-Giedion syndrome: a further cause of West syndrome
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M Bracci, Le Scotte, 53100 Siena, Italy
    Brain Dev 25:294-8. 2003
    ..The seizures appeared extremely refractory to several anticonvulsive treatments. In conclusion, we believe that SGS should be included among the causes of secondary West syndrome...
  53. ncbi request reprint CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
    Francesca Mari
    Medical Genetics, University of Siena, Italy
    Hum Mol Genet 14:1935-46. 2005
    ....
  54. ncbi request reprint Recurrent torticollis caused by dissecting vertebral artery aneurysm in a pediatric patient: results of endovascular treatment by use of coil embolization: case report
    Salvatore Grosso
    Department of Pediatrics, University of Siena, Siena, Italy
    Neurosurgery 50:204-7; discussion 207-8. 2002
    ..We report a child with recurrent torticollis caused by an intracranial dissecting vertebral artery aneurysm. This is a very rare condition in childhood, and it was resolved successfully with endovascular treatment...
  55. ncbi request reprint Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization
    Salvatore Grosso
    Department of Pediatrics, Pediatric Neurology Section, University of Siena, Ospedale Santa Maria alle Scotte, Via M Bracci, 53100 Siena, Italy
    Epilepsy Res 66:13-21. 2005
    ....
  56. ncbi request reprint Epilepsy in neurofibromatosis 1
    Rossella Vivarelli
    Department of Pediatrics, University of Siena, Siena, Italy
    J Child Neurol 18:338-42. 2003
    ..Brain MRI and, in selected cases, functional studies appear to be useful in patients with neurofibromatosis 1 who present with seizures, especially if associated with mental retardation...
  57. ncbi request reprint De novo complete trisomy 5p: clinical and neuroradiological findings
    Salvatore Grosso
    Department of Pediatrics, University of Siena, Siena, Italy
    Am J Med Genet 112:56-60. 2002
    ..Neuronal migration disorders were also present and probably account for the drug-resistant epilepsy presented by the patient...
  58. ncbi request reprint GM2 gangliosidosis variant B1 neuroradiological findings
    Salvatore Grosso
    Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M Bracci Le scotte, 53100 Siena, Italy
    J Neurol 250:17-21. 2003
    ..In addition, our investigations suggest that MRI abnormalities in GM2 gangliosidosis correlate with the clinical form of the disease rather than with the biochemical variant of the enzymatic defect...
  59. ncbi request reprint Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy
    Hum Genet 118:76-81. 2005
    ..We hypothesize a loss-of-function mutation of the AF9/MLLT3 gene, and a possible role for the FAT gene on chromosome 4, in the genesis of the proband's severe neurological phenotype...
  60. ncbi request reprint Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
    Luisa de Sanctis
    Department of Pediatric Sciences, 94, Piazza Polonia, 10126 Torino, Italy
    Pediatr Res 53:749-55. 2003
    ..Our results stress the usefulness of this approach to obtain a complete diagnosis, expand the GNAS1 mutation spectrum, and illustrate the wide mutation heterogeneity of PHP and PHP-Ia...