| KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ... Annals of neurology 71 (1), 15-25, 2012 | 552 | 2012 |
| Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ... Brain 140 (5), 1316-1336, 2017 | 513 | 2017 |
| Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ... Nature genetics 45 (9), 1067-1072, 2013 | 504 | 2013 |
| 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 | 317 | 2014 |
| GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ... Neurology 82 (14), 1245-1253, 2014 | 313 | 2014 |
| STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ... Neurology 86 (10), 954-962, 2016 | 309 | 2016 |
| The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 286 | 2015 |
| De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 285 | 2015 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 263 | 2018 |
| Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy G Orhan, M Bock, D Schepers, EI Ilina, SN Reichel, H Löffler, N Jezutkovic, ... Annals of neurology 75 (3), 382-394, 2014 | 258 | 2014 |
| GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy JR Lemke, R Hendrickx, K Geider, B Laube, M Schwake, RJ Harvey, ... Annals of neurology 75 (1), 147-154, 2014 | 256 | 2014 |
| Early and effective treatment of KCNQ2 encephalopathy T Pisano, AL Numis, SB Heavin, S Weckhuysen, M Angriman, A Suls, ... Epilepsia 56 (5), 685-691, 2015 | 250 | 2015 |
| 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 |
| Dissecting the genetic basis of focal cortical dysplasia: a large cohort study S Baldassari, T Ribierre, E Marsan, H Adle-Biassette, S Ferrand-Sorbets, ... Acta neuropathologica 138, 885-900, 2019 | 246 | 2019 |
| 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 | 246 | 2014 |
| Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ... Neurology 81 (19), 1697-1703, 2013 | 237 | 2013 |
| 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 | 230 | 2019 |
| Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes J Schubert, A Siekierska, M Langlois, P May, C Huneau, F Becker, ... Nature genetics 46 (12), 1327-1332, 2014 | 218 | 2014 |
| 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 | 215 | 2015 |
| KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients JJ Millichap, KL Park, T Tsuchida, B Ben-Zeev, L Carmant, R Flamini, ... Neurology: Genetics 2 (5), e96, 2016 | 205 | 2016 |
