| 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 | 1200 | 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 | 973 | 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 | 343 | 2009 |
| 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 | 295 | 1999 |
| Fever, genes, and epilepsy S Baulac, I Gourfinkel-An, R Nabbout, G Huberfeld, J Serratosa, ... The lancet neurology 3 (7), 421-430, 2004 | 272 | 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 | 266 | 2014 |
| The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 237 | 2015 |
| 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 | 225 | 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 | 221 | 2013 |
| 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 | 217 | 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 | 207 | 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 | 198 | 2014 |
| 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 | 179 | 2014 |
| 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 | 149 | 2006 |
| 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 | 146 | 2010 |
| 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 | 138 | 2012 |
| DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy F Picard, P Makrythanasis, V Navarro, S Ishida, J De Bellescize, D Ville, ... Neurology 82 (23), 2101-2106, 2014 | 133 | 2014 |
| Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females C Depienne, O Trouillard, D Bouteiller, I Gourfinkel‐An, K Poirier, F Rivier, ... Human mutation 32 (1), E1959-E1975, 2011 | 132 | 2011 |
| 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 | 128 | 2003 |
| 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 | 124 | 2016 |
