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
Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene.
TL;DR: A 2-year-old girl affected by SBH with epilepsy and periodic limb movements (PLMs) is described, in whom a novel "de novo" missense substitution, Met1Val (M1V), was identified in the DCX gene.
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What is the role of next generation sequencing in status epilepticus
TL;DR: At present, trios whole exome sequencing, with a first analysis of point and copy number variants of an in silico panel containing 'status epilepticus' genes might represent best choice as it would allow a rapid screening.
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Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length
Barbara Iadarola,Luciano Xumerle,Denise Lavezzari,Marta Paterno,Luca Marcolungo,Cristina Beltrami,Elisabetta Fortunati,Davide Mei,Annalisa Vetro,Renzo Guerrini,Elena Parrini,Marzia Rossato,Massimo Delledonne +12 more
TL;DR: This work aims to improve the alignment of multiple-mapping reads through the extension of the standard DNA fragment size and demonstrated that genotypability has a greater impact in revealing obscure regions, with ~1% increase in variant calling in respect to shorter DNA fragments.
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Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life.
Domenica Battaglia,Daniela Chieffo,Simona Lucibello,Carla Marini,Valentina Sibilia,Davide Mei,Francesca Darra,Francesca Offredi,Elena Fontana,Nicola Specchio,Simona Cappelletti,Tiziana Granata,Francesca Ragona,Mara Patrini,Maria Giuseppina Baglietto,G. Prato,Annarita Ferrari,Federico Vigevano,Eugenio Mercuri,Bernardo Dalla Bernardina,Renzo Guerrini,C. Dravet,Francesco Guzzetta +22 more
TL;DR: In this article, the authors identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of patients with Dravet syndrome (DS).
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Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome
Stefano Doccini,Maria Chiara Meschini,Davide Mei,Renzo Guerrini,Federico Sicca,Filippo M. Santorelli +5 more
TL;DR: In a pilot study, the hypothesis that impaired OxPhos metabolism is not uncommon in DS is tested and it remains unclear the extent and specificity of low oxidative phosphorylation (OxPhos) activities in DS and whether defects may also occur on different SCN1A genotypes.