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Accueil > Les laboratoires et unités de recherche > les chercheurs      
Bulle laterale Stéphanie Baulac, PhD
 
lien inserm Lien vers le site cricrm Hôpital Pitié-Salpêtrière Université de  Kyoto

Image de Stéphanie Baulac, PhD

INSERM UMR 975
 
Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière-CRICM

Hôpital de la Pitié-Salpêtrière  
Institut du Cerveau et de la Moelle (5ème Etage)
47 boulevard de l'Hôpital
75651 Paris CEDEX 13
France

Tel +33 1 57 27 43 39
Email: stephanie.baulac@upmc.fr

Currently

I am part of the group "Genetics of pathologies of neuronal excitability and conduction" (Eric LeGuern) of the Centre de Recherche de l'Institut du Cerveau et de la Moelle (CRICM_UMR_S975 directed by Bernard Zalc).

Interests in Biology Keywords
  • Human Genetics, Animal models, Epilepsy, Febrile seizures, GEFS+, ADLTE, LGI1

Publications

  • You can retrieve my scientific publications from PubMed

Where and when

  • Since 2011: Researcher (CR1 INSERM) at CRICM, UMR_S975 (Eric LeGuern)
    Subject: study of an LGI1 knockout out mouse/ genetics of mendelian epilepsies
     
  • 2009-2010 : Sabbatical research year at the Institute of Laboratory Animals, Kyoto University (Prof Tadao Serikawa)- JSPS Fellow
    Subject: characterization of mutagenized-rat models for human epilepsies
     
  • 2005-2009 : Researcher (CR1 INSERM) at CRICM, UMR_S975 (Eric LeGuern)
    Subject: Genetics and Physiopathology of Familial Epilepsies
     
  • 2002-2005: Postdoc at the Center for Neurologic diseases (Dennis Selkoe), Harvard Medical School, Boston.
  • 2005-2009 : Researcher (CR1 INSERM) at CRICM, UMR_S975 (Eric LeGuern)  
    Subject: Genetics and Physiopathology of Familial Epilepsies

  • 2002-2005: Postdoc at the Center for Neurologic diseases (Dennis Selkoe), Harvard Medical School, Boston.
    Subject: Physiopathology of Alzheimer and Parkinson diseases
     
  • 1998-2001: PhD at UMR_S975 (Alexis Brice and Eric LeGuern) at the Pitié-Salpêtrière hospital, Paris
    Subject: Genetics of Familial Epilepsies 

Work on Inherited Epilepsies
 

I am part of the group "Genetics of pathologies of neuronal excitability and conduction" (Eric LeGuern) of the Centre de Recherche de l'Institut du Cerveau et de la Moelle (CRICM_UMR_S975 directed by Bernard Zalc).

My main goal is to understand the molecular basis of inherited epilepsies. My PhD work has contributed to the demonstration of the existence of familial forms of epilepsy with the implication of two epilepsy genes, SCN1A, encoding the neuronal α1 subunit sodium channel (Escayg*, Baulac*, Moulard* et al., Nature Genetics, 2000, *coauthors) and GABRG2, encoding the γ2 subunit of GABAA receptor (Baulac et al., Nature Genetics, 2001) in a familial syndrome named "generalized epilepsy with febrile seizures plus, GEFS+". I have also contributed to the mapping of several genes: to chromosomes 1q31 and 18qter in a family with febrile seizures and mesial temporal lobe epilepsy (Baulac et al., Annals of Neurology, 2001), to chromosome chromosome 8p23-p21 in two GEFS+ families (Baulac et al., Archives of Neurology, 2008), to chromosome 6q16-22 in a family with polymicrogyria and epilepsy (Ouled Amar Ben Cheikh et al., Neurogenetics, 2009), to chromosome 3p in a family with FS and absence (Nabbout et al., Neurology, 2007).

Recently, my research activities have contributed to elucidate the molecular basis of LGI1-related epilepsy using genetic and functional approaches (Chabrol et al., 2007a; Chabrol et al., 2007b; de Bellescize et al., 2009). My recent work on a mouse LGI1 knockout has demonstrated early-onset spontaneous seizures with premature death in homozygous LGI1-/- mice, and increased susceptibility to audiogenic seizures in heterozygous LGI1+/- mice (Chabrol et al., 2010)