Predictive precision medicine efforts for voltage-gated sodium channel genetic variants

by Mantegazza, Massimo, Cestèle, Sandrine
Published in Brain (London, England : 1878)

Sodium channelopathies of skeletal muscle and brain

by Mantegazza, Massimo, Cestèle, Sandrine, Catterall, William A
Published in Physiological reviews

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis

by Khalfallah, Olfa, Jarjat, Marielle, Davidovic, Laetitia, Nottet, Nicolas, Cestèle, Sandrine, Mantegazza, Massimo, Bardoni, Barbara
Published in Stem cells (Dayton, Ohio)

Post-translational dysfunctions in channelopathies of the nervous system

by Terragni, Benedetta, Scalmani, Paolo, Franceschetti, Silvana, Cestèle, Sandrine, Mantegazza, Massimo
Published in Neuropharmacology

Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine

by Dhifallah, Sandra, Lancaster, Eric, Merrill, Shana, Leroudier, Nathalie, Mantegazza, Massimo, Cestèle, Sandrine
Published in Frontiers in molecular neuroscience

Molecular mechanisms of neurotoxin action on voltage-gated sodium channels

by Cestèle, Sandrine, Catterall, William A
Published in Biochimie

Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Nav1.1 (SCN1A) Na+ Channel

by Cestele, Sandrine, Scalmani, Paolo, Rusconi, Raffaella, Terragni, Benedetta, Franceschetti, Silvana, Mantegazza, Massimo
Published in The Journal of neuroscience

Structure and Function of the Voltage Sensor of Sodium Channels Probed by a β-Scorpion Toxin

by Cestèle, Sandrine, Yarov-Yarovoy, Vladimir, Qu, Yusheng, Sampieri, François, Scheuer, Todd, Catterall, William A.
Published in The Journal of biological chemistry

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

by Cestèle, Sandrine, Schiavon, Emanuele, Rusconi, Raffaella, Franceschetti, Silvana, Mantegazza, Massimo
Published in Proceedings of the National Academy of Sciences - PNAS

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

by Bechi, Giulia, Rusconi, Raffaella, Cestèle, Sandrine, Striano, Pasquale, Franceschetti, Silvana, Mantegazza, Massimo
Published in Neurobiology of disease

Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels

by Chever, Oana, Zerimech, Sarah, Scalmani, Paolo, Lemaire, Louisiane, Pizzamiglio, Lara, Loucif, Alexandre, Ayrault, Marion, Krupa, Martin, Desroches, Mathieu, Duprat, Fabrice, Léna, Isabelle, Cestèle, Sandrine, Mantegazza, Massimo
Published in The Journal of clinical investigation

β‐Scorpion toxin effects suggest electrostatic interactions in domain II of voltage‐dependent sodium channels

by Mantegazza, Massimo, Cestèle, Sandrine
Published in The Journal of physiology

Four disulfide-bridged scorpion beta neurotoxin CssII: Heterologous expression and proper folding in vitro

by Estrada, Georgina, Garcia, Blanca I., Schiavon, Emanuele, Ortiz, Ernesto, Cestele, Sandrine, Wanke, Enzo, Possani, Lourival D., Corzo, Gerardo
Published in Biochimica et biophysica acta. General subjects

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

by Brunklaus, Andreas, Brünger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nuñez-Enamorado, Noemi, Perez-Palma, Eduardo, Scott Perry, M, Pysden, Karen, Russ-Hall, Sophie J, Scheffer, Ingrid E, Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M, Lal, Dennis, Møller, Rikke S, Mantegazza, Massimo, Cestèle, Sandrine
Published in Brain (London, England : 1878)

Structure-function relationship of new peptides activating human Nav1.1

by Lopez, Ludivine, De Waard, Stephan, Meudal, Hervé, Caumes, Cécile, Khakh, Kuldip, Peigneur, Steve, Oliveira-Mendes, Barbara, Lin, Sophia, De Waele, Jolien, Montnach, Jérôme, Cestèle, Sandrine, Tessier, Agnès, Johnson, J.P., Mantegazza, Massimo, Tytgat, Jan, Cohen, Charles, Béroud, Rémy, Bosmans, Frank, Landon, Céline, De Waard, Michel
Published in Biomedicine & pharmacotherapy

Voltage-gated ion channels and gating modifier toxins

by Catterall, William A., Cestèle, Sandrine, Yarov-Yarovoy, Vladimir, Yu, Frank H., Konoki, Keiichi, Scheuer, Todd
Published in Toxicon (Oxford)

Isolation and molecular cloning of beta-neurotoxins from the venom of the scorpion Centruroides suffusus suffusus

by Espino-Solis, Gerardo Pavel, Estrada, Georgina, Olamendi-Portugal, Timoteo, Villegas, Elba, Zamudio, Fernando, Cestele, Sandrine, Possani, Lourival D., Corzo, Gerardo
Published in Toxicon (Oxford)

Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study

by May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Jonghe, Peter De, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Francis, Ben, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Sander, Josemir W, Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M Arfan, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger
Published in Lancet neurology

The impact of genetic and experimental studies on classification and therapy of the epilepsies

by Avanzini, Giuliano, Mantegazza, Massimo, Terragni, Benedetta, Canafoglia, Laura, Scalmani, Paolo, Franceschetti, Silvana
Published in Neuroscience letters

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

by May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Jabbari, Kamel, Ruppert, Ann-Kathrin, Lal, Dennis, Cestèle, Sandrine, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Sisodiya, Sanjay M, Nabbout, Rima, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Desbiens, Richard, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Avbersek, Andreja, McCormack, Mark, Delanty, Norman, Depondt, Chantal, Zimprich, Fritz, Peter, Sarah, van Rooij, Jeroen, Ikram, M Arfan, Avanzini, Giuliano, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, May, Patrick, Girard, Simon, Bobbili, Dheeraj R, Schubert, Julian, Arfan Ikram, M, Maljevic, Snezana, Cossette, Patrick, Lerche, Holger, Ferlazzo, Edoardo, La Neve, Angela, Vignoli, Aglaia, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah
Published in Lancet neurology