Dissecting the genetic basis of focal cortical dysplasia: a large cohort study
Baldassari, Sara, Ribierre, Théo, Marsan, Elise, Adle-Biassette, Homa, Ferrand-Sorbets, Sarah, Bulteau, Christine, Dorison, Nathalie, Fohlen, Martine, Polivka, Marc, Weckhuysen, Sarah, Dorfmüller, Georg, Chipaux, Mathilde, Baulac, Stéphanie
Published in Acta neuropathologica (01.12.2019)
Published in Acta neuropathologica (01.12.2019)
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Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy
Ribierre, Théo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stéphanie
Published in The Journal of clinical investigation (01.06.2018)
Published in The Journal of clinical investigation (01.06.2018)
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies
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
Published in Nature genetics (01.05.2013)
Published in Nature genetics (01.05.2013)
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Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients
Kim, Seyeon, Baldassari, Sara, Sim, Nam Suk, Chipaux, Mathilde, Dorfmüller, Georg, Kim, Dong Seok, Chang, Won Seok, Taly, Valérie, Lee, Jeong Ho, Baulac, Stéphanie
Published in Annals of neurology (01.06.2021)
Published in Annals of neurology (01.06.2021)
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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
Weckhuysen, Sarah, Marsan, Elise, Lambrecq, Virginie, Marchal, Cécile, Morin‐Brureau, Mélanie, An‐Gourfinkel, Isabelle, Baulac, Michel, Fohlen, Martine, Kallay Zetchi, Christine, Seeck, Margitta, Grange, Pierre, Dermaut, Bart, Meurs, Alfred, Thomas, Pierre, Chassoux, Francine, Leguern, Eric, Picard, Fabienne, Baulac, Stéphanie
Published in Epilepsia (Copenhagen) (01.06.2016)
Published in Epilepsia (Copenhagen) (01.06.2016)
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Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis
De Fusco, Antonio, Cerullo, Maria Sabina, Marte, Antonella, Michetti, Caterina, Romei, Alessandra, Castroflorio, Enrico, Baulac, Stephanie, Benfenati, Fabio
Published in Neurobiology of disease (01.06.2020)
Published in Neurobiology of disease (01.06.2020)
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Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
Baulac, Stéphanie, Ishida, Saeko, Marsan, Elise, Miquel, Catherine, Biraben, Arnaud, Nguyen, Dang Khoa, Nordli, Doug, Cossette, Patrick, Nguyen, Sylvie, Lambrecq, Virginie, Vlaicu, Mihaela, Daniau, Maïlys, Bielle, Franck, Andermann, Eva, Andermann, Frederick, Leguern, Eric, Chassoux, Francine, Picard, Fabienne
Published in Annals of neurology (01.04.2015)
Published in Annals of neurology (01.04.2015)
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LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels
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
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
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Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Bonduelle, Thomas, Hartlieb, Till, Baldassari, Sara, Sim, Nam Suk, Kim, Se Hoon, Kang, Hoon-Chul, Kobow, Katja, Coras, Roland, Chipaux, Mathilde, Dorfmüller, Georg, Adle-Biassette, Homa, Aronica, Eleonora, Lee, Jeong Ho, Blumcke, Ingmar, Baulac, Stéphanie
Published in Acta neuropathologica communications (06.01.2021)
Published in Acta neuropathologica communications (06.01.2021)
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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis
Lee, Wei Shern, Baldassari, Sara, Stephenson, Sarah E M, Lockhart, Paul J, Baulac, Stéphanie, Leventer, Richard J
Published in International journal of molecular sciences (25.01.2022)
Published in International journal of molecular sciences (25.01.2022)
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
Picard, Fabienne, Makrythanasis, Periklis, Navarro, Vincent, Ishida, Saeko, de Bellescize, Julitta, Ville, Dorothée, Weckhuysen, Sarah, Fosselle, Erwin, Suls, Arvid, De Jonghe, Peter, Vasselon Raina, Maryline, Lesca, Gaetan, Depienne, Christel, An-Gourfinkel, Isabelle, Vlaicu, Mihaela, Baulac, Michel, Mundwiller, Emeline, Couarch, Philippe, Combi, Romina, Ferini-Strambi, Luigi, Gambardella, Antonio, Antonarakis, Stylianos E, Leguern, Eric, Steinlein, Ortrud, Baulac, Stéphanie
Published in Neurology (10.06.2014)
Published in Neurology (10.06.2014)
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Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy
Ribierre, Théo, Bacq, Alexandre, Donneger, Florian, Doladilhe, Marion, Maletic, Marina, Roussel, Delphine, Le Roux, Isabelle, Chassoux, Francine, Devaux, Bertrand, Adle-Biassette, Homa, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Chipaux, Mathilde, Baldassari, Sara, Poncer, Jean-Christophe, Baulac, Stéphanie
Published in Nature neuroscience (01.06.2024)
Published in Nature neuroscience (01.06.2024)
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Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice
Chabrol, Elodie, Navarro, Vincent, Provenzano, Giovanni, Cohen, Ivan, Dinocourt, Céline, Rivaud-Péchoux, Sophie, Fricker, Desdemona, Baulac, Michel, Miles, Richard, LeGuern, Eric, Baulac, Stéphanie
Published in Brain (London, England : 1878) (01.09.2010)
Published in Brain (London, England : 1878) (01.09.2010)
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Targeted suppression of mTORC2 reduces seizures across models of epilepsy
Okoh, James, Mays, Jacqunae, Bacq, Alexandre, Oses-Prieto, Juan A, Tyanova, Stefka, Chen, Chien-Ju, Imanbeyev, Khalel, Doladilhe, Marion, Zhou, Hongyi, Jafar-Nejad, Paymaan, Burlingame, Alma, Noebels, Jeffrey, Baulac, Stephanie, Costa-Mattioli, Mauro
Published in Nature communications (14.11.2023)
Published in Nature communications (14.11.2023)
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PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis
Yamaguchi, Junna, Isnard, Pierre, Robil, Noemie, de la Grange, Pierre, Hoguin, Clement, Schmitt, Alain, Hummel, Aurelie, Megret, Jerome, Goudin, Nicolas, Luka, Marine, Menager, Mickael M, Masson, Cecile, Zarhrate, Mohammed, Bole-Feysot, Christine, Janiszewska, Michalina, Polyak, Kornelia, Dairou, Julien, Baldassari, Sara, Baulac, Stephanie, Broissand, Christine, Legendre, Christophe, Terzi, Fabiola, Canaud, Guillaume
Published in The Journal of clinical investigation (01.08.2024)
Published in The Journal of clinical investigation (01.08.2024)
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WONOEP 2022: Neurotechnology for the diagnosis of epilepsy
Wagstyl, Konrad, Kobow, Katja, Casillas‐Espinosa, Pablo M., Cole, Andrew J., Jiménez‐Jiménez, Diego, Nariai, Hiroki, Baulac, Stéphanie, O'Brien, Terence, Henshall, David C., Akman, Ozlem, Sankar, Raman, Galanopoulou, Aristea S., Auvin, Stéphane
Published in Epilepsia (Copenhagen) (01.08.2024)
Published in Epilepsia (Copenhagen) (01.08.2024)
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WONOEP appraisal: Modeling early onset epilepsies
De Meulemeester, Ann‐Sofie, Reid, Christopher, Auvin, Stéphane, Carlen, Peter L., Cole, Andrew J., Szlendak, Roza, Di Sapia, Rossella, Moshé, Solomon L., Sankar, Raman, O'Brien, Terence J., Baulac, Stéphanie, Henshall, David C., Akman, Özlem, Galanopoulou, Aristea S.
Published in Epilepsia (Copenhagen) (23.07.2024)
Published in Epilepsia (Copenhagen) (23.07.2024)
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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures
BOILLOT, Morgane, HUNEAU, Clément, MARTIN, Benoit, LEGUERN, Eric, ANDERSON, Matthew P, BAULAC, Stéphanie, MARSAN, Elise, LEHONGRE, Katia, NAVARRO, Vincent, ISHIDA, Saeko, DUFRESNOIS, Béatrice, OZKAYNAK, Ekim, GARRIGUE, Jérôme, MILES, Richard
Published in Brain (London, England : 1878) (01.11.2014)
Published in Brain (London, England : 1878) (01.11.2014)
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Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
Gozzelino, Luca, Kochlamazashvili, Gaga, Baldassari, Sara, Mackintosh, Albert Ian, Licchetta, Laura, Iovino, Emanuela, Liu, Yu Chi, Bennett, Caitlin A, Bennett, Mark F, Damiano, John A, Zsurka, Gábor, Marconi, Caterina, Giangregorio, Tania, Magini, Pamela, Kuijpers, Marijn, Maritzen, Tanja, Norata, Giuseppe Danilo, Baulac, Stéphanie, Canafoglia, Laura, Seri, Marco, Tinuper, Paolo, Scheffer, Ingrid E, Bahlo, Melanie, Berkovic, Samuel F, Hildebrand, Michael S, Kunz, Wolfram S, Giordano, Lucio, Bisulli, Francesca, Martini, Miriam, Haucke, Volker, Hirsch, Emilio, Pippucci, Tommaso
Published in Brain (London, England : 1878) (29.07.2022)
Published in Brain (London, England : 1878) (29.07.2022)
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