mTOR pathway in familial focal epilepsies

Por Ribierre, Théo, Baulac, Stéphanie
Publicado no Oncotarget (2016)

Genetics of inherited human epilepsies

Por Gourfinkel-An, Isabelle, Baulac, Stéphanie, Brice, Alexis, Leguern, Eric, Baulac, Michel
Publicado em 2001

LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development

Por Boillot, Morgane, Lee, Chun-Yao, Allene, Camille, Leguern, Eric, Baulac, Stéphanie, Rouach, Nathalie
Publicado no Sci Rep (2016)

Epilepsy Gene LGI1 Regulates Postnatal Developmental Remodeling of Retinogeniculate Synapses

Por Zhou, Yu-Dong, Zhang, Dawei, Ozkaynak, Ekim, Wang, Xuan, Kasper, Ekkehard M., Leguern, Eric, Baulac, Stéphanie, Anderson, Matthew P.
Publicado em 2012

A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

Por Baulac, Stéphanie, Gourfinkel-An, Isabelle, Picard, Fabienne, Rosenberg-Bourgin, Myriam, Prud'homme, Jean-François, Baulac, Michel, Brice, Alexis, LeGuern, Eric
Publicado em 1999

Increased DJ-1 expression under oxidative stress and in Alzheimer's disease brains

Por Baulac, Stéphanie, Lu, Hope, Strahle, Jennifer, Yang, Ting, Goldberg, Matthew S, Shen, Jie, Schlossmacher, Michael G, Lemere, Cynthia A, Lu, Qun, Xia, Weiming
Publicado em 2009

The Nogo Receptor Ligand LGI1 Regulates Synapse Number and Synaptic Activity in Hippocampal and Cortical Neurons

Por Thomas, Rhalena A., Gibon, Julien, Chen, Carol X. Q., Chierzi, Sabrina, Soubannier, Vincent G., Baulac, Stephanie, Séguéla, Philippe, Murai, Keith, Barker, Philip A.
Publicado no eNeuro (2018)

Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice

Por Chabrol, Elodie, Navarro, Vincent, Provenzano, Giovanni, Cohen, Ivan, Dinocourt, Céline, Rivaud-Péchoux, Sophie, Fricker, Desdemona, Baulac, Michel, Miles, Richard, LeGuern, Eric, Baulac, Stéphanie
Publicado em 2010

Depdc5 knockdown causes mTOR‐dependent motor hyperactivity in zebrafish

Por de Calbiac, Hortense, Dabacan, Adriana, Marsan, Elise, Tostivint, Hervé, Devienne, Gabrielle, Ishida, Saeko, Leguern, Eric, Baulac, Stéphanie, Muresan, Raul C., Kabashi, Edor, Ciura, Sorana
Publicado no Ann Clin Transl Neurol (2018)

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

Por Ribierre, Théo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stéphanie
Publicado no J Clin Invest (2018)

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

Por Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie
Publicado em 2011

Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures

Por Boillot, Morgane, Huneau, Clément, Marsan, Elise, Lehongre, Katia, Navarro, Vincent, Ishida, Saeko, Dufresnois, Béatrice, Ozkaynak, Ekim, Garrigue, Jérôme, Miles, Richard, Martin, Benoit, Leguern, Eric, Anderson, Matthew P., Baulac, Stéphanie
Publicado em 2014

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Por Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline, Wolff, Markus, Marescaux, Christian, Miles, Richard, Baulac, Michel, Hirsch, Edouard, Leguern, Eric, Baulac, Stéphanie
Publicado no Nat Genet (2013)

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

Por Rubboli, Guido, Plazzi, Giuseppe, Picard, Fabienne, Nobili, Lino, Hirsch, Edouard, Chelly, Jamel, Prayson, Richard A., Boutonnat, Jean, Bramerio, Manuela, Kahane, Philippe, Dibbens, Leanne M., Gardella, Elena, Baulac, Stéphanie, Møller, Rikke S.
Publicado no Ann Clin Transl Neurol (2018)

Novel GABRG2 mutations cause familial febrile seizures

Por Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie
Publicado no Neurol Genet (2015)

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Por Baulac, Stéphanie, Lenk, Guy M., Dufresnois, Béatrice, Ouled Amar Bencheikh, Bouchra, Couarch, Philippe, Renard, Julie, Larson, Peter A., Ferguson, Cole J., Noé, Eric, Poirier, Karine, Hubans, Christine, Ferreira, Stéphanie, Guerrini, Renzo, Ouazzani, Reda, El Hachimi, Khalid Hamid, Meisler, Miriam H., Leguern, Eric
Publicado em 2014

LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels

Por Seagar, Michael, Russier, Michael, Caillard, Olivier, Maulet, Yves, Fronzaroli-Molinieres, Laure, De San Feliciano, Marina, Boumedine-Guignon, Norah, Rodriguez, Léa, Zbili, Mickael, Usseglio, Fabrice, Formisano-Tréziny, Christine, Youssouf, Fahamoe, Sangiardi, Marion, Boillot, Morgane, Baulac, Stéphanie, Benitez, María José, Garrido, Juan-José, Debanne, Dominique, El Far, Oussama
Publicado no Proc Natl Acad Sci U S A (2017)

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Por Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie
Publicado no Neurol Genet (2016)

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

Por Depienne, Christel, Trouillard, Oriane, Bouteiller, Delphine, Gourfinkel-An, Isabelle, Poirier, Karine, Rivier, François, Berquin, Patrick, Nabbout, Rima, Chaigne, Denys, Steschenko, Dominique, Gautier, Agnès, Hoffman-Zacharska, Dorota, Lannuzel, Annie, Lackmy-Port-Lis, Marilyn, Maurey, Hélène, Dusser, Anne, Bru, Marie, Gilbert-Dussardier, Brigitte, Roubertie, Agathe, Kaminska, Anna, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric
Publicado em 2011

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Por Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer, Afawi, Zaid, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Depienne, Christel, De Kovel, Carolien G.F., Dimova, Petia, Guerrero-López, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jahn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose M., Møller, Rikke S., Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, Von Spiczak, Sarah, Weber, Yvonne, Zara, Federico
Publicado no Hum Mol Genet (2015)