| 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 | 371 | 2006 |
| 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 | 243 | 2019 |
| 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 | 229 | 2007 |
| 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 | 205 | 2009 |
| 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 | 191 | 2009 |
| 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 | 178 | 2017 |
| 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 | 157 | 2016 |
| 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 | 156 | 2019 |
| 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 | 156 | 2011 |
| 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 | 152 | 2004 |
| 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 | 147 | 2016 |
| 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 | 131 | 2012 |
| 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 | 131 | 2003 |
| 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 | 127 | 2019 |
| 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 | 125 | 2018 |
| 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 | 123 | 2017 |
| 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 | 117 | 2018 |
| 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 | 116 | 2018 |
| 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 | 116 | 2004 |
| 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 | 105 | 2011 |
