Carla Marini

Place of birth: Frontone (PU), Italy

Education, training and employment:

1992: degree in Medicine (MD) at the University of Bologna, Bologna Italy. Submission of a thesis: “Epileptic Amnesic Syndrome: personal observation and experimental findings”
1992: general medicine training at the General Hospital of the University of Bologna, Bologna, Italy
1992: state examination, qualifying to practise as a doctor and surgeon with 110 marks out of 110.
1998: accreditation as a Neurologist at the Neurological Institute, University of Bologna, Bologna, Italy. Submission of a thesis: “Genetics of absence epilepsies”. Marks 70 cum laude out of 70.
1998: enrolment in a PhD course at the University of Melbourne, Melbourne, Australia, under the supervision of Professor Samuel F, Berkovic. Title of the project: “Family studies of epilepsy with simple and complex inheritance”.
2001: Young Investigator Award, 24th International Epilepsy Congress, Buenos Aires
2003: Awarded Doctor of Philosophy, University of Melbourne, Melbourne, Australia
2006: Young Investigator Award, American Epilepsy Society, San Diego, CA, USA
Since December 2008: Member of ILAE Genetic Commission
From 03/03/2003 to 22/03/07: research position in the Child Neurology and Psychiatric Unit and Neurogenetics Laboratory of Professor Renzo Guerrini at the IRCCS Stella Maris, Calambrone, Pisa, Italy.
From 23/03/07 to 31/05/07: consultant, full time employee, at the IRCCS Stella Maris, Calambrone, Pisa, Italy
Since 01/06/07: consultant, full time employee, at the Child Neurology Unit, Paediatric Hospital A. Meyer – University of Florence, Florence, Italy

Main research activities:

During the years spent in Melbourne my research has been focused on genetics of epilepsy and I conducted family studies to identify genes for epilepsy. I have been particularly interested in idiopathic generalised epilepsy as well as autosomal dominant nocturnal frontal lobe epilepsy. Working with professor Berkovic and his neurogenetics research group, I have also been exposed to genetic studies in twins, familial temporal lobe epilepsy, generalised epilepsy with febrile seizure plus and familial epilepsy with variable foci. My research into the genetics of epilepsy has lead to the discovery of the first GABA mutation in common epilepsy in children including febrile seizures and childhood absence epilepsy.
The last 8 years of my career, working with professor Guerrini and his collaborators, allowed me to acquire a good experience in the management of children with general neurological problems and, above all, in the clinical management of children with epilepsy. My research is still focused on epilepsies with genetic origin either idiopathic or associated with malformations of cortical development including epileptic encephalopathies with a genetic basis. I contributed to the identification of a new gene for nocturnal frontal lobe epilepsy and performed clinical and genetic studies in patients with Dravet Syndrome and SCN1A gene mutations that have been the basis for interesting genotype-phenotype correlations. I am currently working on genotype-phenotype correlations of several epilepsy genes including PCDH19 and GLUT1.

Publications

1.    Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R.Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. 2010;75(7):646-53.
2.    Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB.Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 2010;133(Pt 5):1415-27.
3.    Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis. Epilepsia. 2009;50(7):1670-8.
4.    Marini C, Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol. Biochem Pharmacol. 2007;74(8):1308-14
5.    Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet. 2006;79(2):342-50.
6.    Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 2004;45(5):467-78.
7.    Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 2004;55(4):550-7.
8.    Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain. 2003;126(Pt 1):230-40.
9.    Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001;28(1):49-52.
10.    Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol. 2000;48(2):264-7.
 
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