- Antiepileptic drugs in Rett Syndrome
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...
- Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder
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...
- Can fever treat epileptic encephalopathies?
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)...
- Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature
Department of Child Neuropsychiatry, G Gaslini Hospital, University of Genoa, Genoa, Italy
Epilepsy Behav 12:326-31. 2008
- Epilepsy in Rett syndrome: clinical and genetic features
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...
- 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...
- Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
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...