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Davide Mei
Davide Mei
Children's Hospital A. Meyer-University of Florence
Verified email at meyer.it
Title
Cited by
Cited by
Year
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro, P Veggiotti, C Marini, ...
Brain 129 (7), 1892-1906, 2006
3632006
Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities
C Marini, D Mei, T Temudo, AR Ferrari, D Buti, C Dravet, AI Dias, ...
Epilepsia 48 (9), 1678-1685, 2007
2312007
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2242019
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia
RJ Ferland, LF Batiz, J Neal, G Lian, E Bundock, J Lu, YC Hsiao, ...
Human molecular genetics 18 (3), 497-516, 2009
2032009
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
C Marini, IE Scheffer, R Nabbout, D Mei, K Cox, LM Dibbens, ...
Epilepsia 50 (7), 1670-1678, 2009
1902009
Diagnostic targeted resequencing in 349 patients with drug‐resistant pediatric epilepsies identifies causative mutations in 30 different genes
E Parrini, C Marini, D Mei, A Galuppi, E Cellini, D Pucatti, L Chiti, ...
Human mutation 38 (2), 216-225, 2017
1712017
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
SA Mullen, C Marini, A Suls, D Mei, E Della Giustina, D Buti, T Arsov, ...
Archives of neurology 68 (9), 1152-1155, 2011
1512011
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
R Guerrini, D Mei, S Sisodiya, F Sicca, B Harding, Y Takahashi, T Dorn, ...
Neurology 63 (1), 51-56, 2004
1492004
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
RS Møller, S Weckhuysen, M Chipaux, E Marsan, V Taly, EM Bebin, ...
Neurology: Genetics 2 (6), e118, 2016
1482016
Phenotypic spectrum of GABRA1 From generalized epilepsies to severe epileptic encephalopathies
K Johannesen, C Marini, S Pfeffer, RS Møller, T Dorn, CE Niturad, ...
Neurology 87 (11), 1140-1151, 2016
1442016
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
DRM Vlaskamp, BJ Shaw, R Burgess, D Mei, M Montomoli, H Xie, ...
Neurology 92 (2), e96-e107, 2019
1422019
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
C Marini, V Conti, D Mei, D Battaglia, D Lettori, E Losito, G Bruccini, ...
Neurology 79 (21), 2109-2114, 2012
1312012
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
F Sicca, A Kelemen, P Genton, S Das, D Mei, F Moro, WB Dobyns, ...
Neurology 61 (8), 1042-1046, 2003
1302003
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
1212019
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
N Di Donato, AE Timms, KA Aldinger, GM Mirzaa, JT Bennett, S Collins, ...
Genetics in Medicine 20 (11), 1354-1364, 2018
1162018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ...
Brain 141 (11), 3160-3178, 2018
1152018
Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations
P Bonanni, M Malcarne, F Moro, P Veggiotti, D Buti, AR Ferrari, E Parrini, ...
Epilepsia 45 (2), 149-158, 2004
1142004
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
V Cetica, S Chiari, D Mei, E Parrini, L Grisotto, C Marini, D Pucatti, ...
Neurology 88 (11), 1037-1044, 2017
1102017
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease
S Zagaglia, C Selch, JR Nisevic, D Mei, Z Michalak, ...
Neurology 91 (22), e2078-e2088, 2018
1072018
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
N Specchio, C Marini, A Terracciano, D Mei, M Trivisano, F Sicca, L Fusco, ...
Epilepsia 52 (7), 1251-1257, 2011
1042011
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