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
More filters
Journal ArticleDOI
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Renzo Guerrini,Davide Mei,Sanjay M. Sisodiya,Federico Sicca,Brian Harding,Yukitoshi Takahashi,Thomas Dorn,A. Yoshida,Josep M. Campistol,G. Krämer,Francesca Moro,William B. Dobyns,Elena Parrini +12 more
TL;DR: Mutation analysis of FLN1 should support genetic counseling in men with periventricular nodular heterotopia and is caused by different genetic mechanisms, including somatic mosaicism.
Journal ArticleDOI
Protocadherin 19 mutations in girls with infantile-onset epilepsy
Carla Marini,Davide Mei,Lucio Parmeggiani,V. Norci,Eulália Calado,Annarita Ferrari,Ana Lucila Moreira,Tiziana Pisano,Nicola Specchio,Federico Vigevano,Domenica Battaglia,Renzo Guerrini +11 more
TL;DR: PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation, and epileptic encephalopathy with DS-like features and focal epilepsy of variable severity were the associated phenotypes and were equally represented.
Journal ArticleDOI
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Federico Sicca,A. Kelemen,Pierre Genton,Shantanu Das,Davide Mei,Francesca Moro,William B. Dobyns,Renzo Guerrini +7 more
TL;DR: Mutation analysis of LIS1, using highly sensitive techniques such as denaturing high-pressure liquid chromatography, should be considered for patients with posteriorly predominant subcortical band heterotopia and pachygyria.
Journal ArticleDOI
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
Saul A. Mullen,Carla Marini,Arvid Suls,Davide Mei,Elvio Della Giustina,Daniela Buti,Todor Arsov,John A. Damiano,Kate M. Lawrence,Peter De Jonghe,Samuel F. Berkovic,Ingrid E. Scheffer,Renzo Guerrini +12 more
TL;DR: Five percent of patients with myoclonic-astatic epilepsy had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency, a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder.
Journal ArticleDOI
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Danique R.M. Vlaskamp,Benjamin J. Shaw,Rosemary Burgess,Davide Mei,Martino Montomoli,Han Xie,Candace T. Myers,Mark F. Bennett,Mark F. Bennett,Mark F. Bennett,Wenshu XiangWei,Danielle Williams,Saskia M. Maas,Alice S. Brooks,Grazia M.S. Mancini,Ingrid M.B.H. van de Laar,Johanna M. van Hagen,Tyson L Ware,Richard Webster,Richard Webster,Stephen M. Malone,Samuel F. Berkovic,Renate M Kalnins,Federico Sicca,G. Christoph Korenke,Conny M. A. van Ravenswaaij-Arts,Michael S. Hildebrand,Heather C Mefford,Yuwu Jiang,Renzo Guerrini,Ingrid E. Scheffer,Ingrid E. Scheffer +31 more
TL;DR: SYNGAP1 mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.