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Publications

2024
Rusina E, Simonti M, Duprat F, Cestèle S, Mantegazza M, Voltage-gated sodium channels in genetic epilepsy: up and down of excitability., J Neurochem 2024 Dec; 168(12): 3872-3890.
2024
Jansen NA, Cestèle S, Marco SS, Schenke M, Stewart K, Patel J, Tolner EA, Brunklaus A, Mantegazza M, van den Maagdenberg AMJM, Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade., Proc Natl Acad Sci U S A 2024 Apr; 121(14): e2309000121.
2023
Lopez L, De Waard S, Meudal H, Caumes C, Khakh K, Peigneur S, Oliveira-Mendes B, Lin S, De Waele J, Montnach J, Cestèle S, Tessier A, Johnson JP, Mantegazza M, Tytgat J, Cohen C, Béroud R, Bosmans F, Landon C, De Waard M, Structure-function relationship of new peptides activating human Nav1.1., Biomed Pharmacother 2023 Sep; 165(): 115173.
2023
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M, Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication., Epilepsia 2023 May; 64(5): 1331-1347.
2022
Mantegazza M, Cestèle S, Predictive precision medicine efforts for voltage-gated sodium channel genetic variants., Brain 2022 Dec; 145(12): 4148-4150.
2022
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S, The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications., Brain 2022 Nov; 145(11): 3816-3831.
2021
Mantegazza M, Cestèle S, Catterall WA, Sodium channelopathies of skeletal muscle and brain., Physiol Rev 2021 Oct; 101(4): 1633-1689.