Affiliation: G. Gaslini Institute
- Intractable epilepsy secondary to cyclosporine toxicity in children undergoing allogeneic hematopoietic bone marrow transplantationRoberto Gaggero
Child Neurology Department, Gaslini Children s Research Institute, Genova, Italy
J Child Neurol 21:861-6. 2006..Not only can cyclosporine cause acute central nervous system toxicity, it can also determine intractable epilepsy associated with mesial temporal sclerosis...
- Linkage analysis and disease models in benign familial infantile seizures: a study of 16 familiesPasquale 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...
- Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new casesPasquale 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...
- Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutationsMaria 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...
- 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five casesMaurizio Elia
Oasi Institute for Research on Mental Retardation and Brain Aging IRCCS, Troina, Enna, Italy
Epilepsia 47:830-8. 2006..We report five unrelated patients with 6q terminal deletions and a peculiar clinical, EEG, and neuroradiologic picture of epilepsy, mental retardation, and colpocephaly...
- Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutationsPasquale 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...
- Severe epilepsy in X-linked creatine transporter defect (CRTR-D)Maria Margherita Mancardi
Department of Child Neuropsychiatry, Epilepsy Unit, G Gaslini Institute, Genoa, Italy
Epilepsia 48:1211-3. 2007..After extensive investigations, metabolite analysis and brain 1H-MRS suggested CRTR-D, which was confirmed by the detection of a known pathogenic mutation in the SLC6A8 gene (c.1631C>T; p.Pro544Leu)...
- Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literatureMaria Pintaudi
Department of Child Neuropsychiatry, G Gaslini Hospital, University of Genoa, Genoa, Italy
Epilepsy Behav 12:326-31. 2008....