| Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells F Gerosa, B Baldani-Guerra, LA Lyakh, G Batoni, S Esin, ... The Journal of experimental medicine 205 (6), 1447-1461, 2008 | 340 | 2008 |
| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 316 | 2014 |
| De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ... The American Journal of Human Genetics 93 (5), 967-975, 2013 | 247 | 2013 |
| De novo mutations in HCN1 cause early infantile epileptic encephalopathy C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel, R Nabbout, ... Nature genetics 46 (6), 640-645, 2014 | 245 | 2014 |
| Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene EL Williams, C Acquaviva, A Amoroso, F Chevalier, M Coulter‐Mackie, ... Human mutation 30 (6), 910-917, 2009 | 222 | 2009 |
| Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ... The American Journal of Human Genetics 96 (5), 808-815, 2015 | 213 | 2015 |
| Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A D Kasperavičiūtė, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, ... Brain 136 (10), 3140-3150, 2013 | 193 | 2013 |
| Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32 Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ... Human molecular genetics 21 (24), 5359-5372, 2012 | 153 | 2012 |
| Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance F Zara, N Specchio, P Striano, A Robbiano, E Gennaro, R Paravidino, ... Epilepsia 54 (3), 425-436, 2013 | 147 | 2013 |
| PRRT2 Mutations are the major cause of benign familial infantile seizures J Schubert, R Paravidino, F Becker, A Berger, N Bebek, A Bianchi, ... Human mutation 33 (10), 1439-1443, 2012 | 122 | 2012 |
| GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy P Striano, YG Weber, MR Toliat, J Schubert, C Leu, R Chaimana, ... Neurology 78 (8), 557-562, 2012 | 116 | 2012 |
| A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability F Miceli, P Striano, MV Soldovieri, A Fontana, R Nardello, A Robbiano, ... Epilepsia 56 (2), e15-e20, 2015 | 92 | 2015 |
| PRRT2-related disorders: further PKD and ICCA cases and review of the literature F Becker, J Schubert, P Striano, AK Anttonen, E Liukkonen, E Gaily, ... Journal of neurology 260, 1234-1244, 2013 | 89 | 2013 |
| Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy N Vanni, F Fruscione, E Ferlazzo, P Striano, A Robbiano, M Traverso, ... Annals of neurology 76 (2), 206-212, 2014 | 87 | 2014 |
| Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization P Striano, A Coppola, R Paravidino, M Malacarne, S Gimelli, A Robbiano, ... Archives of neurology 69 (3), 322-330, 2012 | 82 | 2012 |
| Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy RS Møller, YG Weber, LL Klitten, H Trucks, H Muhle, WS Kunz, ... Epilepsia 54 (2), 256-264, 2013 | 74 | 2013 |
| West syndrome associated with 14q12 duplications harboring FOXG1 P Striano, R Paravidino, F Sicca, P Chiurazzi, S Gimelli, A Coppola, ... Neurology 76 (18), 1600-1602, 2011 | 62 | 2011 |
| Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus L Canafoglia, A Robbiano, D Pareyson, F Panzica, L Nanetti, ... Neurology 82 (22), 2003-2006, 2014 | 49 | 2014 |
| Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31. 3 for genetic generalized epilepsies Epicure Consortium, C Leu, CGF de Kovel, F Zara, P Striano, M Pezzella, ... Epilepsia 53 (2), 308-318, 2012 | 47 | 2012 |
| EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ... Am J Hum Genet 96 (5), 808-815, 2015 | 33 | 2015 |
