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.
Papers
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Journal ArticleDOI
Morquio B disease: From pathophysiology towards diagnosis.
Anna Caciotti,Lucrezia Cellai,Rodolfo Tonin,Davide Mei,Elena Procopio,Maja Di Rocco,Antonio Andaloro,Daniela Antuzzi,Angelica Rampazzo,Miriam Rigoldi,Giulia Forni,Giancarlo la Marca,Renzo Guerrini,Amelia Morrone +13 more
TL;DR: In this paper, the authors report the clinical-biochemical data of nine patients with Morquio B disease and propose a diagnostic plan, setting out the specific clinical biochemical and molecular features of the disease, in order to avoid misdiagnosis and improve patients' management.
Journal ArticleDOI
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Renzo Guerrini,Davide Mei,Katalin Kerti-Szigeti,Sara Pepe,Mary Kay Koenig,Gretchen Von Allmen,Megan T. Cho,Kim McDonald,Janice Baker,Vikas Bhambhani,Zöe Powis,Lance H. Rodan,Rima Nabbout,Giulia Barcia,Jill A. Rosenfeld,Carlos A. Bacino,Cyril Mignot,L. H. Power,Catharine J. Harris,Dragan Marjanovic,Rikke S. Møller,Trine Bjørg Hammer,Riikka Keski Filppula,Päivi Vieira,Clara C. Hildebrandt,Stephanie Sacharow,Luca Maragliano,Fabio Benfenati,Katherine Lachlan,Andreas Benneche,Florence Petit,Jean-Madeleine de Sainte Agathe,Barbara Hallinan,Yue Si,Ingrid M. Wentzensen,Fanggeng Zou,Vinodh Narayanan,Naomichi Matsumoto,Alessandra Boncristiano,Giancarlo la Marca,Mitsuhiro Kato,Kristin Anderson,Carmen Barba,Luisa Sturiale,Domenico Garozzo,Roberto Bei,Laura Masuelli,Valerio Conti,Gaia Novarino,Anna Fassio +49 more
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Journal ArticleDOI
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.
Dalila De Vita,Davide Mei,Domenico Rutigliano,Niccolò Bartalucci,Claudia Cinnante,Elena Parrini,Robertino Dilena,Renzo Guerrini +7 more
TL;DR: A mother and son with focal epilepsy, mild cognitive impairment, and pachygyria, which was parieto‐occipital in the mother and with remarkable posterior greater than anterior severity in the son are described, which can be the only clinical presentation of constitutional LIS1 mutations.
Journal ArticleDOI
Unstable non-coding pentanucleotide repeats destabilize cortical excitability.
Renzo Guerrini,Davide Mei +1 more
Journal ArticleDOI
Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR)
Elena Antelmi,Massimo Mastrangelo,Francesca Bisulli,Luigina Spaccini,Carlotta Stipa,Barbara Mostacci,Davide Mei,Renzo Guerrini,Paolo Tinuper +8 more
TL;DR: This report shows the first video-EEG recording of EFMR, in a 7-year-old female presenting peculiar ictal features, and shows how seizures can be generalised or focal, exacerbated by febrile illnesses, and grouped in clusters.