Stéphanie Baulac

Stéphanie Baulac

Institut du Cerveau et de la Moelle épinière - Paris / France
Others
AD Scientific Index ID: 4471396
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person_outline Stéphanie Baulac's MOST POPULAR ARTICLES
1-) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2A Escayg, BT MacDonald, MH Meisler, S Baulac, G Huberfeld, ...Nature genetics 24 (4), 343-345, 200012222000
2-) First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit geneS Baulac, G Huberfeld, I Gourfinkel-An, G Mitropoulou, A Beranger, ...Nature genetics 28 (1), 46-48, 20019942001
3-) De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesS Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...The American Journal of Human Genetics 95 (4), 360-370, 20144412014
4-) Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patientsC Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, ...Journal of medical genetics 46 (3), 183-191, 20094042009
5-) A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33S Baulac, I Gourfinkel-An, F Picard, M Rosenberg-Bourgin, ...The American Journal of Human Genetics 65 (4), 1078-1085, 19993091999