Expertise and current research performed: The Azienda Ospedaliero Universitaria Meyer offers competences dedicated to the management and production of health services to new-born, chidren and adolescents and their families and also to the study and care of children diseases. It collaborates to the promotion, production and maintenance of the health condition of citizens, under-aged and their families. In particular, the team lead by Prof. Guerrini at the Clinical Neurology Unit is an internationally renowned reference group in the field of epilepsy in children, malformations of cortical development, movement disorders, mental retardation and autism. The specific activities of the team, that includes specific clinical and laboratory expertise in the field of neurophysiology and neurogenetics include: clinical and genetic study of malformations of cortical development, of idiopathic epilepsies with a genetic etiology, neurophysiological study of patients with epilepsy, presurgical evaluation and surgical treatment of children with epilepsy, genetic counseling in families with genetic epilepsies and brain malformations. The current research activities include: molecular analysis of genes involved in malformations of cortical development, molecular analysis of genes involved in idiopathic epilepsies with genetic origin and of neurometabolic disorders that are accompanied by epilepsy, genotype-phenotype correlations for the above disorders, linkage analysis of families with epilepsy, microarray-CGH election technique to study cerebral cortical malformations and epilepsy. These research activities are supported by grants obtained from the Italian National Ministry of Health, of Research and Education, Telethon, Mariani Foundation, the Italian League Against Epilepsy

Facilities/Equipment: The Unit is equipped with: PCR machines for DNA amplification, DHPLc instrument (Transgenomic), automated sequence analyzer (Applied Biosystems) facilities for cell lines growth and storage, 2 video-monitoring units, 2 telemetry units, apparatus for transcranial magnetic stimulation, multimodality evoked potentials, and magnetic resonance imaging machines (1.5T and 3T).

Personnel involved in the project

Principal investigator: Renzo Guerrini (M). Medical Doctor; Neurologist; Child Neurologist and Psychiatrist; Clinical Neurophysiologist. Current position: Professor of Child Neurology and Psychiatry, Head – Epilepsy, Neurophysiology and Neurogenetics Unit. 1988 University of Pisa and, from November 2006 – Professor and Head of the Clinical Neurology Unit at Meyer Hospital and University of Florence. Was previously appointed Clinical Professor at Department of Neurology, GKT Medical, London, King’s College Hospital (1999-2001): Professor Pediatric Neurology, Institute of Child Health, University College London and Great Ormond Street Hospital (2001-2003). Research Interests: clinical and genetic aspects of cortical malformations and epilepsy: neurophysiological studies of childhood epilepsy. Total number of publications: 285. Books: 5. Impact factor > 700.

Carla Marini (F). Medical Doctor, Neurologist, PhD (University of Melbourne, Australia: Thesis on ‘Family studies of epilepsy with simple and complex inheritance’). Current position: Clinical Researcher, Epilepsy, Neurophysiology and Neurogenetics Unit, supported by a National Research Grant. Research interest: genetics of epilepsies, family studies to identify genes for epilepsy. From November 2006, Neurologist at the Clinical Neurology Unit, Ospedale Meyer, Florence. Elena Parrini (F). PhD student. Degree in Biological Sciences, Specialization in Genetics, PhD. Researcher at the Stella Maris Foundation, Neurogenetics Lab and Molecular Biologist at the Neurogenetics Lab of Ospedale Meyer, Florence from November 2006. Research activities: analysis of genes involved in neuronal migration disorders and epilepsy; linkage analysis in families with epilepsy. Davide Mei (M). Technician. Coordinator of Laboratory activities at the Neurogenetics Lab of Stella Maris Foundation. From November 2006 appointed by the Ospedale Meyer, Florence with an equivalent position. Degree in Biomedical laboratory techniques Research interests: analysis of genes involved in neuronal migration disorders and epilepsy; linkage analysis in families with epilepsy. Working in the field since 2001. Anna Rita Ferrari (F). Medical Doctor, Child Neurologist and Psychiatrist. Current position: Appointed Consultant, Epilepsy, Neurophysiology and Neurogenetics Unit, Stella Maris Foundation. Research interest: pharmacological trials of antiepileptic drugs, clinical and neurophysiological studies of the epilepsies. Tiziana Pisano (F) Medical Doctor, Child Neurologist and Psychiatrist. Current position: Research Position, Epilepsy, Neurophysiology and Neurogenetics Unit, Stella Maris Foundation. Research interest: clinical and genetic aspects of cortical malformations and epilepsy.

Two PhD students will be appointed.

Recent relevant publications/patents

1.        Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. (2004) Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 36:69-76.

2.        Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Kramer G, Moro F, Dobyns WB, Parrini E. (2004) Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology 13;63:51-6.

3.        Guerrini R, Moro F, Andermann E, et al (2003) Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 54:30-7

4.        Porciatti V, Bonanni P, Fiorentini A, Guerrini R. (2003) Lack of cortical contrast gain control in human photosensitive epilepsy. Nat Neurosci 3:259-63.

5.        Guerrini R, Bonanni P, Patrignani A, et al (2000) Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Brain 200 124:2459-75.