| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2 A Escayg, BT MacDonald, MH Meisler, S Baulac, G Huberfeld, ... Nature genetics 24 (4), 343-345, 2000 | 1287 | 2000 |
| First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene S Baulac, G Huberfeld, I Gourfinkel-An, G Mitropoulou, A Beranger, ... Nature genetics 28 (1), 46-48, 2001 | 1055 | 2001 |
| Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, ... Journal of medical genetics 46 (3), 183-191, 2009 | 394 | 2009 |
| 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 |
| A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33 S Baulac, I Gourfinkel-An, F Picard, M Rosenberg-Bourgin, ... The American Journal of Human Genetics 65 (4), 1078-1085, 1999 | 305 | 1999 |
| Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations S Baulac, S Ishida, E Marsan, C Miquel, A Biraben, DK Nguyen, D Nordli, ... Annals of neurology 77 (4), 675-683, 2015 | 292 | 2015 |
| Fever, genes, and epilepsy S Baulac, I Gourfinkel-An, R Nabbout, G Huberfeld, J Serratosa, ... The lancet neurology 3 (7), 421-430, 2004 | 288 | 2004 |
| 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 | 281 | 2015 |
| Mutations of DEPDC5 cause autosomal dominant focal epilepsies S Ishida, F Picard, G Rudolf, E Noé, G Achaz, P Thomas, P Genton, ... Nature genetics 45 (5), 552-555, 2013 | 265 | 2013 |
| 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 |
| 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 | 243 | 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 |
| Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy T Ribierre, C Deleuze, A Bacq, S Baldassari, E Marsan, M Chipaux, ... The Journal of clinical investigation 128 (6), 2452-2458, 2018 | 196 | 2018 |
| The landscape of epilepsy-related GATOR1 variants S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ... Genetics in Medicine 21 (2), 398-408, 2019 | 188 | 2019 |
| Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia S Weckhuysen, E Marsan, V Lambrecq, C Marchal, M Morin‐Brureau, ... Epilepsia 57 (6), 994-1003, 2016 | 173 | 2016 |
| Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome C Depienne, O Trouillard, I Gourfinkel-An, C Saint-Martin, D Bouteiller, ... Journal of medical genetics 47 (6), 404-410, 2010 | 170 | 2010 |
| Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen‐2) demonstrate excessive p53‐dependent apoptosis and neuronal loss WA Campbell, H Yang, H Zetterberg, S Baulac, JA Sears, T Liu, ... Journal of neurochemistry 96 (5), 1423-1440, 2006 | 167 | 2006 |
| Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy E Marsan, S Baulac Neuropathology and applied neurobiology 44 (1), 6-17, 2018 | 164 | 2018 |
