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
Clinical spectrum of STX1B-related epileptic disorders
Stefan Wolking,Patrick May,Davide Mei,Rikke S. Møller,Simona Balestrini,Katherine L. Helbig,Cecilia Altuzarra,Nicolas Chatron,Charu Kaiwar,Katharina Stöhr,Peter Widdess-Walsh,Bryce A. Mendelsohn,Adam L. Numis,Maria Roberta Cilio,Wim Van Paesschen,Lene Lavard Svendsen,Stephanie Oates,Elaine Hughes,Sushma Goyal,Kathleen M. Brown,Margarita Saenz,Thomas Dorn,Hiltrud Muhle,Alistair T. Pagnamenta,Dimitris Vavoulis,Samantha J. L. Knight,Jenny C. Taylor,Maria Paola Canevini,Francesca Darra,Ralitza H. Gavrilova,Zöe Powis,Shan Tang,Justus Marquetand,Martin Armstrong,Duncan McHale,Eric W. Klee,Gerhard Kluger,Daniel H. Lowenstein,Sarah Weckhuysen,Deb K. Pal,Ingo Helbig,Renzo Guerrini,Rhys H. Thomas,Mark I. Rees,Gaetan Lesca,Sanjay M. Sisodiya,Yvonne G. Weber,Dennis Lal,Dennis Lal,Carla Marini,Holger Lerche,Julian Schubert +51 more
TL;DR: Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.
Posted ContentDOI
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Epi Collaborative,Yen-Chen Anne Feng,Daniel P. Howrigan,Liam Abbott,Katherine Tashman,Felecia Cerrato,Tarjinder Singh,Henrike O. Heyne,Andrea Byrnes,Claire Churchhouse,Dennis Lal,Erin L. Heinzen,Gianpiero L. Cavalleri,Hakon Hakonarson,Ingo Helbig,Roland Krause,Patrick May,Sarah Weckhuysen,Slavé Petrovski,Sitharthan Kamalakaran,Sanjay M. Sisodiya,Patrick Cossette,Chris Cotsapas,Peter De Jonghe,Tracy Dixon-Salazar,Renzo Guerrini,Patrick Kwan,Anthony G Marson,Randy Stewart,Chantal Depondt,Dennis J. Dlugos,Ingrid E. Scheffer,Pasquale Striano,Catharine Freyer,Kevin McKenna,Brigid M. Regan,Susannah T. Bellows,Costin Leu,Caitlin A. Bennett,Esther M.C. Johns,Alexandra Macdonald,Hannah Shilling,Rosemary Burgess,Dorien Weckhuysen,Melanie Bahlo,Terence J. O'Brien,Marian Todaro,Hannah Stamberger,Danielle M. Andrade,Tara Sadoway,Kelly Mo,Heinz Eric Krestel,Sabina Gallati,Savvas S. Papacostas,Ioanna Kousiappa,George A. Tanteles,Katalin Štěrbová,Marketa Vlckova,Lucie Sedlackova,Petra Laššuthová,Karl Martin Klein,Felix Rosenow,Philipp S. Reif,Susanne Knake,Wolfram S. Kunz,Gábor Zsurka,Christian E. Elger,Jürgen Bauer,Michael Rademacher,Manuela Pendziwiat,Hiltrud Muhle,Annika Rademacher,Andreas van Baalen,Sarah von Spiczak,Ulrich Stephani,Zaid Afawi,Amos D. Korczyn,Moien Kanaan,Christina Canavati,Gerhard Kurlemann,Karen Müller-Schlüter,Gerhard Kluger,Martin Häusler,Ilan Blatt,Johannes R. Lemke,Ilona Krey,Yvonne G. Weber,Stefan Wolking,Felicitas Becker,Christian Hengsbach,Sarah Rau,Ana Fulgencio Maisch,Bernhard J. Steinhoff,Andreas Schulze-Bonhage,Susanne Schubert-Bast,Herbert Schreiber,Ingo Borggräfe,Christoph J. Schankin,Thomas U. Mayer,Rudolf Korinthenberg,K. Brockmann,Dieter Dennig,Rene Madeleyn,Reetta Kälviäinen,Pia Auvinen,Anni Saarela,Tarja Linnankivi,Anna-Elina Lehesjoki,Mark I. Rees,Seo-Kyung Chung,William O. Pickrell,Robert Powell,Natascha Schneider,Simona Balestrini,Sara Zagaglia,Vera Braatz,Marvin Johnson,Pauls Auce,Graeme J. Sills,Larry Baum,Pak C. Sham,Stacey S. Cherny,Colin H.T. Lui,Nina Barišić,Norman Delanty,Colin P. Doherty,Arif Shukralla,Mark McCormack,Hany El-Naggar,Laura Canafoglia,Silvana Franceschetti,Barbara Castellotti,Tiziana Granata,Federico Zara,Michele Iacomino,Francesca Madia,Maria Stella Vari,Maria Margherita Mancardi,Vincenzo Salpietro,Francesca Bisulli,Paolo Tinuper,Laura Licchetta,Tommaso Pippucci,Carlotta Stipa,Raffaella Minardi,Antonio Gambardella,Angelo Labate,Grazia Annesi,Lorella Manna,Monica Gagliardi,Elena Parrini,Davide Mei,Annalisa Vetro,Claudia Bianchini,Martino Montomoli,Viola Doccini,Carla Marini,Toshimitsu Suzuki,Yushi Inoue,Kazuhiro Yamakawa,Birute Tumiene,Lynette G. Sadleir,Chontelle King,Emily I. Mountier,S. Hande Çağlayan,Mutluay Arslan,Zuhal Yapici,Uluç Yiş,Pinar Topaloglu,Bülent Kara,Dilsad Turkdogan,Aslı Gündoğdu-Eken,Nerses Bebek,Sibel Uğur-İşeri,Betül Baykan,Barış Salman,Garen Haryanyan,Emrah Yücesan,Yesim Kesim,Cigdem Ozkara,Annapurna Poduri,Russell J. Buono,Thomas N. Ferraro,Michael R. Sperling,Warren D. Lo,Michael Privitera,Jacqueline A. French,Steven C. Schachter,Ruben Kuzniecky,Orrin Devinsky,Manu Hegde,Pouya Khankhanian,Katherine L. Helbig,Colin A Ellis,Gianfranco Spalletta,Fabrizio Piras,Federica Piras,Tommaso Gili,Valentina Ciullo,Andreas Reif,Andrew McQuillin,Nick Bass,Andrew M. McIntosh,Douglas Blackwood,Mandy Johnstone,Aarno Palotie,Michele T. Pato,Carlos N. Pato,Evelyn J. Bromet,Célia Barreto Carvalho,Eric D. Achtyes,Maria Helena Pinto de Azevedo,Roman Kotov,Douglas S. Lehrer,Dolores Malaspina,Stephen R. Marder,Helena Medeiros,Christopher P. Morley,Diana O. Perkins,Janet L. Sobell,Peter F. Buckley,Fabio Macciardi,Mark Hyman Rapaport,James A. Knowles,Ayman H. Fanous,Steven A. McCarroll,Namrata Gupta,Stacey Gabriel,Mark J. Daly,Eric S. Lander,Daniel H. Lowenstein,David Goldstein,Holger Lerche,Samuel F. Berkovic,Benjamin M. Neale +234 more
TL;DR: A convergence in the genetics of common and rare epilepsies associated with ultra-rare coding variation is confirmed and a ubiquitous role for GABAergic inhibition in epilepsy etiology is highlighted in the largest epilepsy WES study to date.
Journal ArticleDOI
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
Kevin Lüthy,Davide Mei,Baptiste Fischer,Maurizio De Fusco,Jef Swerts,Jef Swerts,Jone Paesmans,Elena Parrini,Naomi Lubarr,Inge A. Meijer,Katherine M. Mackenzie,Wang-Tso Lee,Davide Cittaro,Paolo Aridon,Nils Schoovaerts,Nils Schoovaerts,Wim Versées,Patrik Verstreken,Patrik Verstreken,Giorgio Casari,Renzo Guerrini +20 more
TL;DR: Mutations in the TLDc domain of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia and a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that causes a movement disorder in patients and flies is proposed.
Journal ArticleDOI
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
Cristiana Pelorosso,Françoise Watrin,Valerio Conti,Emmanuelle Buhler,Antoinette Gelot,Xiaoxu Yang,Davide Mei,Jennifer McEvoy-Venneri,Jean-Bernard Manent,Valentina Cetica,Laurel L. Ball,Anna Maria Buccoliero,Antonin Vinck,Carmen Barba,Joseph G. Gleeson,Renzo Guerrini,Alfonso Represa +16 more
TL;DR: This study indicates that, in addition to single activating mutations and double-hit inactivating mutations in mTOR pathway genes, severe forms of cortical dysplasia can also result from activating mutations affecting different genes in this pathway.
Journal ArticleDOI
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
TL;DR: It has now been clarified that the clinical spectrum of the syndrome does not have firmly established boundaries, and fragments of it can at times also be manifested in other genetic epilepsy syndromes, thereby leading to overdiagnosis of Dravet syndrome beyond SCN1A.