Maria Pintaudi

Summary

Publications

  1. doi request reprint Antiepileptic drugs in Rett Syndrome
    Maria Pintaudi
    University of Genoa, DiNOGMI, Italy Electronic address
    Eur J Paediatr Neurol 19:446-52. 2015
  2. pmc Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder
    Alessandro Giannattasio
    Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
    Ital J Pediatr 35:23. 2009
  3. ncbi request reprint Can fever treat epileptic encephalopathies?
    Maria Pintaudi
    Department of Child Neuropsychiatry G Gaslini Hospital, University of Genoa, Italy
    Epilepsy Res 77:44-61. 2007
  4. ncbi request reprint Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature
    Maria Pintaudi
    Department of Child Neuropsychiatry, G Gaslini Hospital, University of Genoa, Genoa, Italy
    Epilepsy Behav 12:326-31. 2008
  5. doi request reprint Epilepsy in Rett syndrome: clinical and genetic features
    Maria Pintaudi
    Department of Child Neuropsychiatry, Epilepsy Centre, G Gaslini Institute, University of Genoa, Genoa, Italy
    Epilepsy Behav 19:296-300. 2010
  6. ncbi request reprint A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam
    Laura Doria Lamba
    Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Children Neuropsychiatry Operative Unit, G Gaslini Institute, Genoa, Italy
    J Child Neurol 22:769-72. 2007
  7. ncbi request reprint 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

Collaborators

Detail Information

Publications7

  1. doi request reprint Antiepileptic drugs in Rett Syndrome
    Maria Pintaudi
    University of Genoa, DiNOGMI, Italy Electronic address
    Eur J Paediatr Neurol 19:446-52. 2015
    ..We investigated drugs most often used to treat epilepsy in Rett Syndrome and their efficacy in a large cohort of Italian patients...
  2. pmc Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder
    Alessandro Giannattasio
    Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
    Ital J Pediatr 35:23. 2009
    ..Clinical and neuropsychological evaluation of a child with pancreatic agenesis, mental retardation and pervasive developmental disorder is reported...
  3. ncbi request reprint Can fever treat epileptic encephalopathies?
    Maria Pintaudi
    Department of Child Neuropsychiatry G Gaslini Hospital, University of Genoa, Italy
    Epilepsy Res 77:44-61. 2007
    ..To describe resistant epileptic encephalopathies that significantly improved after an acute febrile episode (FE)...
  4. ncbi request reprint Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature
    Maria Pintaudi
    Department of Child Neuropsychiatry, G Gaslini Hospital, University of Genoa, Genoa, Italy
    Epilepsy Behav 12:326-31. 2008
    ....
  5. doi request reprint Epilepsy in Rett syndrome: clinical and genetic features
    Maria Pintaudi
    Department of Child Neuropsychiatry, Epilepsy Centre, G Gaslini Institute, University of Genoa, Genoa, Italy
    Epilepsy Behav 19:296-300. 2010
    ..Thus, this study should help clinicians provide better clinical counseling to the families of patients with Rett syndrome...
  6. ncbi request reprint A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam
    Laura Doria Lamba
    Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Children Neuropsychiatry Operative Unit, G Gaslini Institute, Genoa, Italy
    J Child Neurol 22:769-72. 2007
    ..Subsequent therapy with low-dose clonazepam was highly effective in reducing myoclonic jerks and exaggerated startle reaction, and unlike previously used drugs, it was decisive in reducing hypertonia...
  7. ncbi request reprint 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...