| 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, 2000 | 1037 | 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, 2001 | 872 | 2001 |
| 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 | 269 | 1999 |
| 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 | 250 | 2009 |
| Fever, genes, and epilepsy S Baulac, I Gourfinkel-An, R Nabbout, G Huberfeld, J Serratosa, ... The lancet neurology 3 (7), 421-430, 2004 | 221 | 2004 |
| 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 | 179 | 2014 |
| 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, 2013 | 156 | 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 | 138 | 2013 |
| 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 | 136 | 2015 |
| The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 127 | 2015 |
| 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, 2014 | 127 | 2014 |
| De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393, 2015 | 126 | 2015 |
| 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 | 126 | 2006 |
| Functional γ-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and γ-secretase substrates S Baulac, MJ LaVoie, WT Kimberly, J Strahle, MS Wolfe, DJ Selkoe, W Xia Neurobiology of disease 14 (2), 194-204, 2003 | 117 | 2003 |
| 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 | 116 | 2012 |
| 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 | 115 | 2010 |
| Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25‐q31 S Baulac, F Picard, A Herman, J Feingold, E Genin, E Hirsch, ... Annals of Neurology: Official Journal of the American Neurological …, 2001 | 110 | 2001 |
| Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25‐q31 S Baulac, F Picard, A Herman, J Feingold, E Genin, E Hirsch, ... Annals of Neurology: Official Journal of the American Neurological …, 2001 | 110 | 2001 |
| 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, 2014 | 107 | 2014 |
| Dominant partial epilepsies: a clinical, electrophysiological and genetic study of 19 European families F Picard, S Baulac, P Kahane, E Hirsch, R Sebastianelli, P Thomas, ... Brain 123 (6), 1247-1262, 2000 | 104 | 2000 |