Expertise and current research performed: Institute Gaslini is part of the network of excellence (IRCCS) of Italian National Health System and is a leader center for the diagnosis, cure and research of pediatric disease. Research activities carried on by Institute Gaslini cover the field of Immunology, Neuroscience, Oncology and Genetics. The Department of Neuroscience of Institute Gaslini include Clinical Units (Child Neurology, Epilepsy and Eletrophysiology, Neurosurgery, Neuromuscolar disease and Neuroradiology) and Laboratory Facilities (Neurogenetics, Diagnosis of Metabolic Disorders, Muscle Patology, Neural Tube defects). The Laboratory of Neurogenetics is focused on diagnosis and research of different genetic disorders, particularly Epilepsy, Muscular dystrophies and Leukoencephalopathies. The Laboratory of Neurogentics is carrying on different projects including: - Identification of novel disease gene (Epilepsy and Leukoencephalopathies) by linkage analysis and positional candidate approach; - Identification of microrearragnements in epilepsy by FISH and array-CGH. - Pharmacogenomic of pharmacoresistent epilepsies by candidate gene SNPing. - Mutational screening of candidate genes in neuromuscular and epileptic disorders. - Functional studies of disease genes (expression of mutant alleles in cellular systems, muscle and neuro-pathology, identification of interacting protein by “two-hybrids” technology or co-immunoprecipitation). - Development of novel therapeutic strategies in Muscular Dystrophies (protein rescue by anti-proteasome drugs).

Facilities/Equipment: The Laboratory is equipped with: Standard instruments for molecular biology (6 PCR machines, 1 fluorescence microscope, 2 chemical hoods, 4 hoods for cell culture, 7 PC), Instruments for mutation detection (ABI 3100 Sequencer, Transgenomics DHPLC) and SNP genotyping ABI 7500 real time PCR. Scanner for array-CGH (Axon 4000 B) and Robotic device for liquid handling (EPI motion)

Personnel involved in the project

Principal investigator: Federico Zara (M). Dr. PhD in Medical Genetics. Head of Laboratory of Neurogenetics. Working in the field since 1994. Research interests are: - Genetics and Pharmacogenomics of Epilepsies (Severe Myolonic epilepsy of Infancy autosomal dominat cortical tremor and epilepsy, Idiopathic generalized epilepsies, febrile seizures) - Genetics of Muscular and Neurodegenerative disease (Dystrophinopathies, Limb-girdle muscular dystrophies, Muscular glyocogenosis, Leukoencephalo- pathies). - Epileptogenesis (electrophysiology of ion-channels, in collaboration with other groups).

Roberto Gaggero (M). Dr. MD in Child Neurology and Psychiatry. Head of Epilepsy Center. Working in the field since 1976. Research interests include: - Clinical Epileptology; - Neurophysiology of Epilepsy; - Genetics of Epilepsy. Francesca Dagna Bricarelli (F). External consultant. Dr. PhD in Medical Genetics. Head of Laboratory of Genetics - Galliera Hospital - Genoa. Working in the field since 1965. Research interests are: - Cytogenetics; - Molecular cytogenetics. Francesca Madia (F). Dr. PhD in Medical Genetics. Post doctoral fellow. Working in the field since 2000. Research interests are: - Molecular genetics in epileptic disorders; - Molecular cytogenetics. Amedeo Bianchi (M). External consultant. Dr. MD in Neurology. Coordinator Genetic Commission of the Italian League against Epilepsy. Working in the field since 1975. Research interests are: - Genetic epidemiology of Epilepsies; - Clinical epileptology. Stefania Gianotti (F). PhD student in Medical Genetics. Research interests: Molecular Genetics. Pasquale Striano (M). MD degree cum laude in Medicine and Surgery. Speciality in Nervous and Mental Diseases cum laude. Post-doc at Epilepsy at Federico II University of Naples. Member of Italian Society of Neurology (SIN) and Italian League against Epilepsy (LICE).

Recent relevant publications/patents

1.       Berkovic SF, Heron SEB, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson B, Yamamoto T, Mulley JC, Zara F, Scheffer IE (2004) Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy. Annals of Neurol 55:550-557.

2.       Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F (2003) Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 60:1961-1967.

3.       De Falco FA, Striano P, de Falco A, Striano S, Santangelo R, Perretti A, Balbi P,Cecconi M, Zara F (2003) Benign Adult Familial Myoclonic Epilepsy: genetic heterogeneity and allelelism with ADCME locus. Neurology 60:1381-1385.

4.       Malacarne M, Gennaro E, Madia F, Pozzi S, Vacca D, Barone B, dalla Bernardina B, Bianchi A, Bonanni P, De Marco P, Gambardella A, Giordano L, Lispi ML, Romeo A, Santorum E, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri F, Dagna Bricarelli F, Zara F (2001) Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Am J Hum Genet 68:1521-1526.

5.       Zara F, Gennaro E, Stabile M, Carbone I, Malacarne M, Majello L, Santangelo R, de Falco FA, Dagna Bricarelli F (2000) Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromsome 16p13. Am J Hum Genet 66:1552-1557.