Resultados de búsqueda - Sandrine Cestèle
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Sodium channelopathies of skeletal muscle and brain por Massimo Mantegazza, Sandrine Cestèle, William A. Catterall
Publicado 2021Revisão -
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Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Na<sub>v</sub>1.1 (SCN1A) Na<sup>+</sup>Channel por Sandrine Cestèle, Paolo Scalmani, Raffaella Rusconi, Benedetta Terragni, Silvana Franceschetti, Massimo Mantegazza
Publicado 2008Artigo -
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Voltage Sensor–Trapping por Sandrine Cestèle, Yusheng Qu, John C. Rogers, Hervé Rochat, Todd Scheuer, William A. Catterall
Publicado 1998Artigo -
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A rescuable folding defective Na<sub>v</sub>1.1 (<i>SCN1A</i>) sodium channel mutant causes GEFS+: Common mechanism in Na<sub>v</sub>1.1 related epilepsies? por Raffaella Rusconi, Romina Combi, Sandrine Cestèle, Daniele Grioni, Silvana Franceschetti, Leda DalprÃ, Massimo Mantegazza
Publicado 2009Artigo -
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Divergent effects of the <scp>T</scp>1174S <scp><i>SCN1A</i></scp> mutation associated with seizures and hemiplegic migraine por Sandrine Cestèle, Angelo Labate, Raffaella Rusconi, Patrizia Tarantino, Laura Mumoli, Silvana Franceschetti, Grazia Annesi, Massimo Mantegazza, Antonio Gambardella
Publicado 2013Revisão -
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Scorpion Toxins Affecting Sodium Current Inactivation Bind to Distinct Homologous Receptor Sites on Rat Brain and Insect Sodium Channels por Dalia Gordon, Marie‐France Martin‐Eauclaire, Sandrine Cestèle, Charles Kopeyan, Edmond Carlier, Rym Ben Khalifa, M. Pelhate, Hervé Rochat
Publicado 1996Artigo -
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Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels por Oana Chever, Sarah Zerimech, Paolo Scalmani, Louisiane Lemaire, Lara Pizzamiglio, Alexandre Loucif, Marion Ayrault, Martin Krupa, Mathieu Desroches, Fabrice Duprat, Isabelle Léna, Sandrine Cestèle, Massimo Mantegazza
Publicado 2021Artigo -
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Gain of function <i>SCN1A</i> disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication por Sara Matricardi, Sandrine Cestèle, Marina Trivisano, Benedetta Kassabian, Nathalie Leroudier, Roberta Vittorini, Margherita Nosadini, Elisabetta Cesaroni, Sabrina Siliquini, Cristina Marinaccio, Francesca Longaretti, Barbara Podestà, Francesca Felicia Operto, Concetta Luisi, Stefano Sartori, Clementina Boniver, Nicola Specchio, Federico Vigevano, Carla Marini, Massimo Mantegazza
Publicado 2023Revisão -
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The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications por Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vințan, Joseph D. Symonds, James E. Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaëtan Lesca, Stewart Macleod, Dragan Marjanović, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Pérez‐Palma, Μ. Scott Perry, Karen Pysden, Sophie Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly K. Weiss, Elaine Wirrell, Sameer M. Zuberi, Dennis Lal, Rikke S. Møller, Massimo Mantegazza, Sandrine Cestèle
Publicado 2022Artigo -
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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study por Patrick May, Simon Girard, Merle Harrer, Dheeraj Reddy Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance‐Touchette, Caroline Meloche, Micheline Gravel, Cristina Elena Niturad, Julia Knaus, Carolien G. F. de Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann‐Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D. Coombs, Christopher A. Reid, Pasquale Striano, Hande Çağlayan, Auli Sirén, Kate V. Everett, Rikke S. Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S. Kunz, Yvonne G. Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M. Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria Stella Vari, Dorothee Kasteleijn‐Nolst Trenité, Betül Baykan, Uğur Özbek, Nerses Bebek, Karl Martin Klein, Felix Rosenow, Dang Khoa Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta‐Walti, Graeme J. Sills, Pauls Auce, Ben Francis, Michael R. Johnson, Anthony G Marson, Bianca Berghuis, Josemir W. Sander, Andreja Avberšek, Mark McCormack, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M. Arfan Ikram, André G. Uitterlinden, G. Avanzini, Stéphanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, José M. Serratosa, Bobby P.C. Koeleman, Aarno Palotie, Anna‐Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Patrick May, Simon Girard
Publicado 2018Artigo
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