Madame
Stéphanie BAULAC
Directeur de recherche
Chercheur
ED3C

Genetics and physiopathology of inherited epilepsies

05-09-2014
09-07-2014
16-10-2017
Available to host a PhD student
Genetics and physiopathology of inherited epilepsies

Team

Notre équipe s’intéresse aux aspects génétiques et physiopathologiques des épilepsies familiales. Notre objectif est d’élucider les bases moléculaires de certaines formes d’épilepsie et de clarifier...

Biographie / Publications

  1. Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P. Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, Baulac M, Mundwiller E, Couarch P, Combi R, Ferini-Strambi L, Gambardella A, Antonarakis S, Leguern E, Steinlein O and Baulac S (2014). DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology, May 9. [Epub ahead of print]. highlighted
  2. Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium, Haaf T, LeGuern E, Depienne C (2014). De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nature Genetics. Jun;46(6):640-5.
  3. Baulac S, Lenk G, Dufresnois B, Bencheikh B, Couarch P, Renard J, Larson P, Ferguson C, Noé E, Poirier K, Hubans C, Guerrini R, Ouazzani R, El Hachimi K, Meisler M, Leguern E (2014). Role of FIG4 in an autosomal recessive form of polymicrogyria with epilepsy, Neurology, Mar 25;82(12):1068-75. highlighted
  4. Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E and Baulac S (2013). Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nature Genetics, Apr 26;45(5):552-5. highlighted
  5. Baulac S, Ishida S, Mashimo T, Boillot M, FumotoN, KuwamuraM, OhnoY, TakizawaA, AotoT, UedaM, IkedaA, LeguernE, Takahashi R, Serikawa T (2012). A rat model for Lgi1-related epilepsies. Human Molecular Genetics, 15; 21(16): 3546-57.
  6. Zhou YD, Zhang D, Ozkaynak E, Wang X, Kasper EM, Leguern E, Baulac S, Anderson MP (2012). Epilepsy Gene LGI1 Regulates Postnatal Developmental Remodeling of Retinogeniculate Synapses. Journal of Neuroscience. Jan 18; 32(3): 903-910.
  7. ChabrolE, NavarroV, ProvenzanoG, CohenI, DinocourtC, Rivaud-PéchouxS, FrickerD,BaulacM,MilesR, LeguernE and Baulac S (2010). Electro-clinical Characterization of Epileptic Seizures in LGI1-deficient Mice. Brain 133(9): 2749-62.
  8. Eugene E, Depienne C, Baulac S, Baulac M, Fritschy JM, Le Guern E, Miles R, Poncer JC (2007). GABA (A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition. Journal of Neurosciences 27 (51): 14108-16.
  9. Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E and Baulac M (2004). Fever, genes and epilepsy. Lancet Neurology Jul; 3(7): 421-30.
  • 10. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R and Leguern E. First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the gamma 2 subunit gene. Nature Genetics 2001; 28:46-8. 
  • 11. Escayg A*, Baulac S*, Moulard B*, MacDonald BT, Meisler MH, Huberfeld G, An-Gourfinkel I, Brice A, Leguern E, Chaigne D, Buresi C and Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics 2000; 24:343-5. (*contribution égale).