C U R R I C U L U M V I T A E S I N T E T I C O
I
NFORMAZIONI PERSONALINome PARRINI ELENA Data di nascita 18/111/1974
Qualifica Dirigente Biologo Amministrazione AOU Meyer
Incarico attuale Dirigente Biologo presso Laboratorio di Neurogenetica, Clinica di Neurologia Pediatrica Numero telefonico dell’ufficio 050/5662844
Fax dell’ufficio 050/5662329 E-mail istituzionale e.parrini@meyer.it
T
ITOLI DI STUDIO E PROFESSIONALI ED ESPERIENZE LAVORATIVETitolo di studio 2001:LAUREA IN SCIENZE BIOLOGICHE CONSEGUITA PRESSO L’UNIVERSITÀ DI PISA (110/110 E LODE) Altri titoli di studio e professionali 2004 Specializzazione in Genetica Applicata, conseguita presso l’ Università di Pisa (110/110 e lode)
2007 Dottore di ricerca in Neuroscienze, conseguito presso l’ Università di Pisa Esperienze professionali (incarichi
ricoperti)
03/2001-10/2006Borse di studio, Contratti a Progetto preso Laboratorio di Neurogenetica IRCCS Fondazione Stella Maris, Pisa
11/2006-12/2008 Contratto libero professionale presso Laboratorio di Neurogenetica, Azienda Ospedaliera Universitaria Meyer, Firenze
Dal 01/2009: Assunzione a tempo indeterminato presso Laboratorio di Neurogenetica, Azienda Ospedaliera Universitaria Meyer, Firenze
Dal 01/2014: Responsabile della Struttura Organizzativa Semplice (Intra SOC) Laboratorio di diagnostica delle malattie del sistema del sistema nervoso - Neurogenetica
Capacità linguistiche Buona conoscenza della lingua inglese scritta e parlata
Capacità nell’uso di tecnologie -Conoscenza e utilizzo di PC in ambiente DOS, Mac, Windows 98 / ME / XP/Vista.·
-Conoscenza di Internet e suo utilizzo con Browser come Internet Explorer, Firefox etc.·
-Conoscenza e utilizzo strumenti e softwares per analisi di biologia e genetica molecolare Altro
Capacità e competenze professionali
Principali attività di ricerca: analisi molecolare di geni associati a disturbi della migrazione neuronale ed epilessia, analisi di next generation sequencing, studi di correlazione genotipo-fenotipo in pazienti con malformazioni corticali ed epilessia.
Corsi, congressi ed eventi formativi
Partecipazione a congressi Nazionali e Internazionali
Partecipazione a corsi e stages formativi presso Istituti di Ricerca e Laboratori in Italia e all’estero
Pubblicazioni scientifiche
Sicca F, Silengo M, Parrini E, Ferrero GB, Guerrini R. Subcortical Band Heterotopia with simplified gyral pattern and syndactily. American Journal of Medical Genetics 2003; 1(119A):207-210.
Guerrini R, Moro F, Andermann E, Hughes E, D’Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S. Nonsyndromic Mental Retardation and Cryptogenic Epilepsy in Women with DCX Mutations. Annals of Neurology 2003; 54(1):30-37.
Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. J Med Genet 2003;40(12):e128.
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia 2004;45(2):149-58.
Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J. Krämer G, Moro F, Dobyns WB, Parrini E. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Neurology 2004 Jul 13;63(1):51-6.
Parrini E, Mei D, Wright M, Dorn T, Guerrini R. Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. Neurogenetics 2004;5(3):191-6.
Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome Neurology 2005;64(2):254-62.
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.
Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006;29:1892-906.
Gardella E, Tinuper P, Marini C, Guerrini R, Parrini E, Bisulli F, Liguori R, Montagna P, Lugaresi E. Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree Epilepsia.
2006;47(10):1643-9.
Guerrini R, Marini C, Parrini E. Malformations of Cortical Development as a cause of Mental Retardation and Epilepsy: Anatomoclinical and Genetic Spectrum Epileptologie 2006;23:86-98.
Guerrini R, Marini C, Parrini E. Genetica e malformazioni cerebrali associate ad epilessia Gior Neuropsich Età Evol 2006; 26:72-87.
Mei E, Parrini E, Pasqualetti M, Tortorella G, Franzoni E, Giussani U, Marini C, Migliarini S, Guerrini R. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. Neurology 2007;68(6):446-50.
Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz D, Guerrini R. High frequency of genomic deletions and duplications in the LIS1 gene in lissencephaly: implications for molecular diagnosis. Journal of medical genetics. J Med Genet. 2008;45:355-61.
Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia. 2009;50:1344-53.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R.Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology. 2009;7:784-92.
Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis. 2010 May;38(2):154-66.
Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R. Xp22.3 Genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia. 2010 Apr;51(4):647-54.
Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R. In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males. Am J Med Genet A. 2011 May;155A(5):1140-6.
Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA. FLNA genomic rearrangements cause periventricular nodular heterotopia. Neurology. 2012 Jan 24;78(4):269-78.
Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. Eur J Hum Genet. 2012 ;20:995-8.
Guerrini R, Parrini E. Epilepsy in Rett syndrome, CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia.
2012 ;53:2067-78.
Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R.
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 2012
;79:1244-51.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013;45:639-47.
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013;136(Pt 11):3378-94.
Barba C, Parrini E, Coras R, Galuppi A, Craiu D, Kluger G, Parmeggiani A, Pieper T, Schmitt-Mechelke T, Striano P, Giordano F, Blumcke I, Guerrini R. Co-occurring malformations of cortical development and SCN1A gene mutations. Epilepsia. 2014;55:1009-19.
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 ;371:733- 43.
Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Periventricular nodular heterotopia in Smith-Magenis syndrome. Am J Med Genet A. 2014
;164A:3142-7.
Mei D, Darra F, Barba C, Marini C, Fontana E, Chiti L, Parrini E, Dalla Bernardina B, Guerrini R. Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. Epilepsia. 2014;55:1748-53.
Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. J Med Genet. 2015;52:405-12.
Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi- Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015;14:1182-95.
Bartolini E, Falchi M, Zellini F, Parrini E, Grisotto L, Cosottini M, Posar A, Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas-Puig J, Barba C, Guerrini R. The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. Neurology. 2016;86:1250-9.
Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, Vuillaumier-Barrot S, Lefeber DJ, Guerrini R; CDG Group (Parrini E, Ashikov A, Bordugo A, Cantalupo G, Casara G, Bernardina BD, Falchi M, Ferri L, Martinelli D, Morrone A, Race V, Rosati A, Souche E). Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Dev Med Child Neurol. 2016;58:1085-91.
Parrini E, Conti V, Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Mol Syndromol. 2016 ;7:220- 233.
Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group., Guerrini R. Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 2016 Nov 19.
Capitoli di libri
Guerrini R., Holthausen H., Parmeggiani L., Parrini E, Chiron C. Epilepsy and malformations of the cerebral cortex. In Epileptic Syndromes in Infancy, Childhood and Adolescence (4th edn), J. Roger, M. Bureau, Ch.
Dravet, P. Genton, C.A. Tassinari & P. Wolf ©2005 John Libbey Eurotext Ltd, pp. 491–516.
Guerrini R, Battaglia A, Carrozzo R, Gobbi G, Parrini E, Pramparo T, Zuffardi O. Chromosomal abnormalities. In Epilepsy, a comprehensive textbook. 2nd edition ©2008 Wolters Kluwer, Lippincot Williams & Wilkins, pp 2589- 2602 (3rd volume).
Parrini E, Guerrini R Reelin and lissencephaly. In “Reelin Glycoprotein: Biology, Structure and Roles in Health and Disease. Fatemi, S.H. (Ed.) 2008 Springer.
Parrini E, Guerrini R. Migration and pattern formation: Lissencephaly type I and periventricular heterotopia. In Encyclopedia of Neuroscience. Larry R. Squire (Ed.) 2008 Elsevier.
Guerrini R, Marini C, Parrini E. Cortical malformations and migration disorders. In Encyclopedia of Molecular Mechanisms of Diseases. Florian Lang (Ed.) 2009 Springer.
Guerrini R, Marini C, Parrini E. Lissencephaly with and without craniofacial and extracranial abnormalities. In Encyclopedia of Molecular Mechanisms of Diseases. Florian Lang (Ed.) 2009 Springer.
Guerrini R, Sgadò P, Parrini E. Single gene mutations causing epileptogenic malformations of the cerebral cortex.
In Encyclopedia of Basic Epilepsy. Philip. A. Schwartzkroin (Eds.). 2009 Elsevier.
Parrini E, Mei D, Conti V, Sgadò P, Marini C, Guerrini R. Cortical dysplasias of genetic origin. In Genetics of
Epilepsy and Genetic Epilepsies, G. Avanzini and J. Noebels (Eds.) 2009 John Libbey Eurotext, pp. 1–20.
Guerrini R, Parrini E. Epilessie su base genetica. In Genetica Umana e Medica. Genuardi M. Neri G. (Eds.): 2010 Elsevier.
Parrini E, Guerrini R. Agyria-pachygyria-band spectrum. In The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children. Simon D. Shorvon, Frederick Andermann, Renzo Guerrini (Eds-) 2011Cambridge University Press, Cambridge.
Guerrini R, Parrini E. Malformations of Cortical Development: Genetic Aspects. In: A Practical Approach to Neonatal Diseases. Giuseppe Buonocore Rodolfo Bracci, Michael Weindling. (Eds.) 2012 Springer.
Guerrini R, Parrini E. Neurogenetics of Epilepsy. In: Oxford Textbook of Epilepsy and Epileptic Seizures. Simon Shorvon, Renzo Guerrini, Mark Cook, Samden D. Lhatoo (Eds.). Oxford University Press.
Autorizzo il trattamento dei miei dati personali ai sensi del Decreto Legislativo 30 giugno 2003, n. 196 "Codice in materia di protezione dei dati personali".
Firenze, 27/12/2016
Dott.ssa Elena Parrini
