D
Davide Mei
Researcher at University of Florence
Publications - 112
Citations - 4477
Davide Mei is an academic researcher from University of Florence. The author has contributed to research in topics: Epilepsy & Dravet syndrome. The author has an hindex of 39, co-authored 98 publications receiving 3598 citations. Previous affiliations of Davide Mei include University of Alabama at Birmingham & Boston Children's Hospital.
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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
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities
Carla Marini,Davide Mei,Teresa Temudo,Anna Rita Ferrari,Daniela Buti,Charlotte Dravet,Ana I. Dias,Ana Lucila Moreira,Eulália Calado,Stefano Seri,Brian G. R. Neville,Juan Narbona,Evan Reid,Roberto Michelucci,Federico Sicca,Helen Cross,Renzo Guerrini +16 more
TL;DR: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+).
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Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia
Russell J. Ferland,Luis Federico Bátiz,Jason Neal,Gewei Lian,Elizabeth A. Bundock,Jie Lu,Yi-Chun Hsiao,Rachel E. Diamond,Davide Mei,Alison H. Banham,Philip J. Brown,Charles R. Vanderburg,Jeffrey T. Joseph,Jonathan L. Hecht,Rebecca D. Folkerth,Renzo Guerrini,Christopher A. Walsh,Esteban M. Rodríguez,Volney L. Sheen +18 more
TL;DR: It is shown that neurons in post-mortem human PH brains migrated appropriately into the cortex, that periventricular nodules were primarily composed of later-born neurons, and that the neuroependyma was disrupted in all PH cases.
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SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Carla Marini,Ingrid E. Scheffer,Ingrid E. Scheffer,Rima Nabbout,Davide Mei,Kathy Cox,Leanne M. Dibbens,Leanne M. Dibbens,Jacinta M McMahon,Xenia Iona,Rochio Sanchez Carpintero,Maurizio Elia,Maria Roberta Cilio,Nicola Specchio,Lucio Giordano,Pasquale Striano,Elena Gennaro,J. Helen Cross,Sara Kivity,Miriam Y. Neufeld,Zaid Afawi,Eva Andermann,Daniel L. Keene,Olivier Dulac,Federico Zara,Samuel F. Berkovic,Renzo Guerrini,John C. Mulley,John C. Mulley +28 more
TL;DR: The type, frequency, and size of microchromosomal copy number variations affecting the neuronal sodium channel α 1 subunit gene (SCN1A) in Dravet syndrome, other epileptic encephalopathies, and generalized epilepsy with febrile seizures plus are determined.
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Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
Elena Parrini,Carla Marini,Davide Mei,Anna Galuppi,Elena Cellini,Daniela Pucatti,Laura Chiti,Domenico Rutigliano,Claudia Bianchini,Simona Virdò,Dalila De Vita,Stefania Bigoni,Carmen Barba,Francesco Mari,Martino Montomoli,Tiziana Pisano,Anna Rosati,Renzo Guerrini +17 more
TL;DR: Data show that panels targeting about 100 genes represent the best cost‐effective diagnostic option in pediatric drug‐resistant epilepsies and enable molecular diagnosis of atypical phenotypes, allowing to broaden phenotype–genotype correlations.