Stéphanie Baulac
Stéphanie Baulac
Team leader at Institut du Cerveau (ICM), Paris, France
Verified email at - Homepage
Cited by
Cited by
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
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
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
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
Fever, genes, and epilepsy
S Baulac, I Gourfinkel-An, R Nabbout, G Huberfeld, J Serratosa, ...
The lancet neurology 3 (7), 421-430, 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
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 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
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
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
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
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
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
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
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
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
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
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
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
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
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