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Elena Parrini
Researcher at University of Florence
Publications - 81
Citations - 3679
Elena Parrini is an academic researcher from University of Florence. The author has contributed to research in topics: Epilepsy & Polymicrogyria. The author has an hindex of 28, co-authored 75 publications receiving 2947 citations. Previous affiliations of Elena Parrini include University of Pisa & Boston Children's Hospital.
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Journal ArticleDOI
Mutations in TUBG1 , DYNC1H1 , KIF5C and KIF2A cause malformations of cortical development and microcephaly
Karine Poirier,Nicolas Lebrun,Nicolas Lebrun,Loic Broix,Loic Broix,Guoling Tian,Yoann Saillour,Yoann Saillour,Cécile Boscheron,Elena Parrini,Stéphanie Valence,Stéphanie Valence,Benjamin Saint Pierre,Benjamin Saint Pierre,Madison Oger,Madison Oger,Didier Lacombe,David Geneviève,Elena Fontana,Franscesca Darra,Claude Cances,Magalie Barth,Dominique Bonneau,Bernardo Dalla Bernadina,Sylvie Nguyen,Cyril Gitiaux,Cyril Gitiaux,Cyril Gitiaux,Philippe Parent,Vincent des Portes,Jean Michel Pedespan,Victoire Legrez,Laetitia Castelnau-Ptakine,Laetitia Castelnau-Ptakine,Patrick Nitschke,Thierry Hieu,Cécile Masson,Diana Zelenika,Annie Andrieux,Fiona Francis,Fiona Francis,Renzo Guerrini,Nicholas J. Cowan,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Jamel Chelly,Jamel Chelly +47 more
TL;DR: The discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD are reported, suggesting that microtubule-dependent mitotic and postmitotic processes are major contributors to the pathogenesis of MCD.
Journal ArticleDOI
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
Elena Parrini,A. Ramazzotti,William B. Dobyns,Davide Mei,Francesca Moro,Pierangelo Veggiotti,Carla Marini,Eva H. Brilstra,B. Dalla Bernardina,L. Goodwin,Adria Bodell,M. C. Jones,M. Nangeroni,S. Palmeri,E. Said,Josemir W. Sander,Pasquale Striano,Yukitoshi Takahashi,L. Van Maldergem,Giovanni Leonardi,M. Wright,Christopher A. Walsh,Renzo Guerrini,Renzo Guerrini +23 more
TL;DR: The high prevalence of mutations causing protein truncations confirms that loss of function is the major cause of the disorder.
Journal ArticleDOI
Somatic mutations in cerebral cortical malformations
Saumya Shekhar Jamuar,Anh Thu N. Lam,Martin Kircher,Alissa M. D'Gama,Jian Wang,Brenda J. Barry,Xiaochang Zhang,Robert Sean Hill,Jennifer N. Partlow,Aldo Rozzo,Sarah Servattalab,Bhaven K. Mehta,Meral Topçu,Dina Amrom,Eva Andermann,Bernard Dan,Elena Parrini,Renzo Guerrini,Ingrid E. Scheffer,Samuel F. Berkovic,Richard J. Leventer,Yiping Shen,Bai-Lin Wu,A. James Barkovich,Mustafa Sahin,Bernard S. Chang,Michael J. Bamshad,Deborah A. Nickerson,Jay Shendure,Annapurna Poduri,Timothy W. Yu,Christopher A. Walsh +31 more
TL;DR: Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations and potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria were found.
Journal ArticleDOI
Neuronal migration disorders
Renzo Guerrini,Elena Parrini +1 more
TL;DR: Polymicrogyria results from abnormal late cortical organization and is inconstantly associated with abnormal neuronal migration, and has been associated with anatomo-specific deficits, including disorders of language and higher cognition.
Journal ArticleDOI
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
Volney L. Sheen,Anna Jansen,Ming-Hui Chen,Elena Parrini,Timothy R. Morgan,R. Ravenscroft,Vijay S. Ganesh,T. Underwood,James S. Wiley,Richard J. Leventer,R. R. Vaid,D. E. Ruiz,G. M. Hutchins,J. Menasha,Judith P. Willner,Y. Geng,Karen W. Gripp,Linda Nicholson,Elizabeth Berry-Kravis,Adria Bodell,Kira Apse,Robert Sean Hill,François Dubeau,F. Andermann,James Barkovich,Eva Andermann,Yin Yao Shugart,Pierre Thomas,Maurizio Viri,Pierangelo Veggiotti,Stephen P. Robertson,Renzo Guerrini,Christopher A. Walsh +32 more
TL;DR: The results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.