Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication

Authors: Matricardi, Sara, Cestèle, Sandrine, Trivisano, Marina, Kassabian, Benedetta, Leroudier, Nathalie, Vittorini, Roberta, Nosadini, Margherita, Cesaroni, Elisabetta, Siliquini, Sabrina, Marinaccio, Cristina, Longaretti, Francesca, Podestà, Barbara, Operto, Francesca Felicia, Luisi, Concetta, Sartori, Stefano, Boniver, Clementina, Specchio, Nicola, Vigevano, Federico, Marini, Carla, Mantegazza, Massimo

Source: Epilepsia. 64(5):1331-1347

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192721463.0x000001&indx=1&recIds=ETOCvdc_100192721463.0x000001

Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability.

Authors: Rusina, Evgeniia, Simonti, Martina, Duprat, Fabrice, Cestèle, Sandrine, Mantegazza, Massimo

Source: Journal of Neurochemistry; Dec2024, Vol. 168 Issue 12, p3872-3890, 19p

Subject Terms: GENETIC counseling, ION channels, MOVEMENT disorders, GENETIC variation, INDIVIDUALIZED medicine, SODIUM channels

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

Authors: 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

Source: Biomedicine and pharmacotherapy. 165

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196449015.0x000001&indx=1&recIds=ETOCvdc_100196449015.0x000001

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

Authors: 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, De Jonghe, Peter, 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, Arfan Ikram, M, 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, Ferlazzo, Edoardo, di Bonaventura, Carlo, La Neve, Angela, Tinuper, Paolo, Bisulli, Francesca, Vignoli, Aglaia, Capovilla, Giuseppe, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Langley, Sarah R, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah, Hengsbach, Christian, Sonsma, Anja C.M., Jonghe, Peter De, Ikram, M Arfan

Source: In The Lancet Neurology August 2018 17(8):699-708

Post-translational dysfunctions in channelopathies of the nervous system

Authors: Terragni, Benedetta, Scalmani, Paolo, Franceschetti, Silvana, Cestèle, Sandrine, Mantegazza, Massimo

Source: In Neuropharmacology April 2018 132:31-42

Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences

Authors: Mantegazza, Massimo, Cestèle, Sandrine

Source: In Neuroscience Letters 22 February 2018 667:92-102

Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.

Authors: Jansen, Nico A.¹ N.A.Jansen@lumc.nl, Cestèle, Sandrine^2,3, Marco, Silvia Sanchez⁴, Schenke, Maarten¹, Stewart, Kirsty⁵, Patel, Jayesh⁴, Tolner, Else A.^1,6, Brunklaus, Andreas^7,8, Mantegazza, Massimo^2,3,9, van den Maagdenberg, Arn M. J. M.^1,6 A.M.J.M.van_den_Maagdenberg@lumc.nl

Source: Proceedings of the National Academy of Sciences of the United States of America. 4/2/2024, Vol. 121 Issue 14, p1-11. 20p.

Subject Terms: *SODIUM channels, *SUDDEN infant death syndrome, *PEOPLE with epilepsy, *MIGRAINE aura, *BRAIN stem, *APNEA

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

Authors: Bechi, Giulia, Rusconi, Raffaella, Cestèle, Sandrine, Striano, Pasquale, Franceschetti, Silvana, Mantegazza, Massimo

Source: In Neurobiology of Disease March 2015 75:100-114

Nonfunctional Na v 1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

Authors: Cestèle, Sandrine, Schiavon, Emanuele, Rusconi, Raffaella, Franceschetti, Silvana, Mantegazza, Massimo

Source: Proceedings of the National Academy of Sciences of the United States of America, 2013 Oct . 110(43), 17546-17551.

Access URL: https://www.jstor.org/stable/23753269

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

Authors: Espino-Solis, Gerardo Pavel, Estrada, Georgina, Olamendi-Portugal, Timoteo, Villegas, Elba, Zamudio, Fernando, Cestele, Sandrine, Possani, Lourival D., Corzo, Gerardo

Source: In Toxicon April 2011 57(5):739-746

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

Authors: Estrada, Georgina, Garcia, Blanca I., Schiavon, Emanuele, Ortiz, Ernesto, Cestele, Sandrine, Wanke, Enzo, Possani, Lourival D., Corzo, Gerardo

Source: In BBA - General Subjects 2007 1770(8):1161-1168

Voltage-gated ion channels and gating modifier toxins

Authors: Catterall, William A., Cestèle, Sandrine, Yarov-Yarovoy, Vladimir, Yu, Frank H., Konoki, Keiichi, Scheuer, Todd

Source: In Toxicon 2007 49(2):124-141

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

Authors: Cestèle, Sandrine, Yarov-Yarovoy, Vladimir, Qu, Yusheng, Sampieri, François, Scheuer, Todd, Catterall, William A.

Source: In Journal of Biological Chemistry 28 July 2006 281(30):21332-21344

Neutralization of gating charges in domain II of the sodium channel α subunit enhances voltage-sensor trapping by a β-scorpion toxin.

Authors: Cestèle, Sandrine, Scheuer, Todd, Mantegazza, Massimo

Source: Journal of General Physiology; September 2001, Vol. 118 Issue 3, p291-301, 11p

Molecular cloning and functional expression of the alpha-scorpion toxin BotIII: pivotal role of the C-terminal region for its interaction with voltage-dependent sodium channels

Authors: Benkhadir, Khadija, Kharrat, Riadh, Cestèle, Sandrine, Mosbah, Amor, Rochat, Hervé, El Ayeb, Mohamed, Karoui, Habib

Source: In Peptides 2004 25(2):151-161

BotIT6: a potent depressant insect toxin from Buthus occitanus tunetanus venom

Authors: Mejri, Thouraya ^∗, Borchani, Lamia, Srairi-Abid, Najet, Benkhalifa, Rym, Cestele, Sandrine, Regaya, Imed, Karoui, Habib, Pelhate, Marcel, Rochat, Hervé, El Ayeb, Mohamed

Source: In Toxicon 2003 41(2):163-171

SODIUM CHANNELOPATHIES OF SKELETAL MUSCLE AND BRAIN.

Authors: Mantegazza, Massimo^1,2,3, Cestèle, Sandrine^1,2, Catterall, William A.⁴ wcatt@uw.edu

Source: Physiological Reviews. Oct2021, Vol. 101 Issue 4, p1633-1689. 58p.

Subject Terms: *SKELETAL muscle, *SODIUM channels, *CYTOLOGY, *CELL physiology, *EPILEPSY

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

Authors: Mantegazza, Massimo^1,2,3 (AUTHOR) mantegazza@ipmc.cnrs.fr, Cestèle, Sandrine^1,2 (AUTHOR)

Source: Brain: A Journal of Neurology. Dec2022, Vol. 145 Issue 12, p4148-4150. 3p.

Subject Terms: *SODIUM channels, *GENETIC variation, *INDIVIDUALIZED medicine, *EPILEPSY, *MEDICAL genetics, *MUTANT proteins

Molecular mechanisms of neurotoxin action on voltage-gated sodium channels

Authors: Cestèle, Sandrine ^{* * Current address: CNRS-UMR 6560, Université de la Mediterranée, IFR Jean Roche, 13916 Marseille, France}, Catterall, William A ^*

Source: In Biochimie 2000 82(9):883-892

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