Massimo MANTEGAZZA

Massimo MANTEGAZZA invites Dr. Dirk ISBRANDT

«What is Hidden under the Noise in Electrophysiological Experiments?» – Tips, Tricks and Strategies Using a Pragmatic Approach »

«Early postnatal CA3 hyperexcitability drives hippocampal development and epiletogenesis in SCN2A development and epilectic encephalopathy«

Massimo MANTEGAZZA invites Prof. Amy LEE

«Caldendrin: a multi-functional regulator of sensory ion channels»

Thesis by Martina SIMONTI

«Autistic phenotype and pathophysiological mechanisms in mice modeling human mutations of the SCN2A gene« Thesis supervisor: Massimo […]

Massimo MANTEGAZZA invites Dr Victor BUENDIA

«Neural mass approaches to describe neural networks»

IPMC

News

Publication

May

Publication IPMC / PNAS / Mantegazza Team

The discovery of a mechanism for generating epileptic seizures in Dravet syndrome opens avenues for better […]

Publications

2026

Sandrine Cestèle, Alexander J. Harper, Sebastian Marra, Nathalie Leroudier, Raffaella Rusconi, Sandra Dhifallah, Iain A Horrocks, Fenella J. Kirkham, Iona MR Morgan, Jaspal Singh, Daniel J. Stobo, Joseph D Symonds, Sameer M Zuberi, Massimo Mantegazza, Andreas Brunklaus, Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers, Neurol. Broom. 2026 Apr 22;12(3):e200352.

2026

Athénaïs Genin, Alicia Janvier, Tristan Moujellil-Legagneur, Marine Blaquière, Alexis Chaussy, Romane Privé, Fabrice Duprat, Massimo Mantegazza, Etienne Audinat, Nicola Marchi, Noémie Cresto, Long-lasting astrocyte remodeling in Dravet Syndrome Scn1a+/– mouse model, Epilepsia 2026 Mar 17.

Wendy Marcantonio, Martina Simonti, Isabelle Léna, Massimo Mantegazza, Sex-Specific Behavioral Characteristics of Juvenile and Adult Haploinsufficient Scn2a+/− Female Mice, Model of Autism Spectrum Disorder., Genes Brain Behav. 2025 Oct;24(5):e70034. .

Emre Baspinar, Martina Simonti, Hadi Srour, Mathieu Desroches, Daniele Avitabile, Massimo Mantegazza, , GABAergic neurons can facilitate the propagation of cortical spreading depolarization: experiments in mouse neocortical slices and a novel neural field computational model, PLoS Comput Biol. 2025 Jun 4;21(6):e1013099.

Pizzamiglio L, Capitano F, Rusina E, Fossati G, Menna E, Léna I, Antonucci F, Mantegazza M., Neurodevelopmental defects in Dravet syndrome Scn1a+/− mice: Targeting GABA-switch rescues behavioral dysfunctions but not seizures and mortality, Neurobiol Dis. 2025 Apr;207:106853.

Lisgaras CP, de la Prida LM, Bertram E., Cunningham M., Liu AA, Gnatkovsky V., Balestrini S., de Curtis M., Galanopoulou AS, Henshall D., Jacobs J., Jefferys JGR, Mantegazza M., Reschke CR, Jiruska P., , The role of electroencephalography in epilepsy research-From seizures to interictal activity and comorbidities, Epilepsy. 2025 May;66(5):1374-1393. .

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.

Capitano F, Kuchenbuch M, Lavigne J, Chaptoukaev H, Zuluaga MA, Lorenzi M, Nabbout R, Mantegazza M, Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to low-voltage-fast onset seizures in Dravet syndrome. Proc Natl Acad Sci USA 2024 Jun; 121(23): e2316364121.

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 USA 2024 Apr; 121(14): e2309000121.

Casillas-Espinosa PM, Wong JC, Grabon W, Gonzalez-Ramos A, Mantegazza M, Yilmaz NC, Patel M, Staley K, Sankar R, O'Brien TJ, Akman Ö, Balagura G, Numis AL, Noebels JL, Baulac S , Auvin S, Henshall DC, Galanopoulou AS, WONOEP appraisal: Targeted therapy development for early onset epilepsies. Epilepsia 2024 Nov; (): .

Smith J, Richerson G, Kouchi H, Duprat F, Mantegazza M, Bezin L, Rheims S, Are we there yet? A critical evaluation of sudden and unexpected death in epilepsy models. Epilepsy 2024 Jan; 65(1): 9-25.

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.

Lemaire L, Desroches M, Krupa M, Mantegazza M, Idealized multiple-timescale model of cortical spreading depolarization initiation and pre-epileptic hyperexcitability caused by NaV1.1/SCN1A mutations. J Math Biol 2023 May; 86(6): 92.

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. Epilepsy 2023 May; 64(5): 1331-1347.

Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou AS, Benfenati F, Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. Physiol Rev 2023 Jan; 103(1): 433-513.

Scalmani P, Paterra R, Mantegazza M, Avoli M, de Curtis M, Involvement of GABAergic Interneuron Subtypes in 4-Aminopyridine-Induced Seizure-Like Events in Mouse Entorhinal Cortex in Vitro. J Neurosci 2023 Mar; 43(11): 1987-2001.

Mantegazza M, Cestèle S, Predictive precision medicine efforts for voltage-gated sodium channel genetic variants. Brain 2022 Dec; 145(12): 4148-4150.

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.

Mantegazza M, Auvin S, Barker-Haliski M, Katsarou AM, Kubova H, Galanopoulou AS, Semple B, Reid CA, A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3-WG1B: Pediatric and genetic models working group of the ILAE/AES joint translational TASK force., Epilepsy Open 2022 Aug; (): .

Beretta S, Gritti L, Ponzoni L, Scalmani P, Mantegazza M, Sala M, Verpelli C, Sala C, Rescuing epileptic and behavioral alterations in a Dravet syndrome mouse model by inhibiting eukaryotic elongation factor 2 kinase (eEF2K). Mol Autism 2022 Jan; 13(1): 1.

Chever O, Zerimech S, Scalmani P, Lemaire L, Pizzamiglio L, Loucif A, Ayrault M, Krupa M, Desroches M, Duprat F, Léna I, Cestèle S, Mantegazza M, Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels. J Clin Invest 2021 Nov; 131(21): .

Mantegazza M, Cestèle S, Catterall WA, Sodium channelopathies of skeletal muscle and brain. Physiol Rev 2021 Oct; 101(4): 1633-1689.

Lemaire L, Desroches M, Krupa M, Pizzamiglio L, Scalmani P, Mantegazza M, Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine. PLoS Comput Biol 2021 Jul; 17(7): e1009239.

Alari V, Scalmani P, Ajmone PF, Perego S, Avignone S, Catusi I, Lonati PA, Borghi MO, Finelli P, Terragni B, Mantegazza M, Russo S, Larizza L, Histone Deacetylase Inhibitors Improve Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients. Int J Mol Sci 2021 May; 22(11): .

Montnach J, De Waard S, Nicolas S, Burel S, Osorio N, Zoukimian C, Mantegazza M, Boukaiba R, Béroud R, Partiseti M, Delmas P, Marionneau C, De Waard M, Fluorescent- and tagged-protoxin II peptides: potent markers of the Nav 1.7 channel pain target. Br J Pharmacol 2021 Jul; 178(13): 2632-2650.

2020

Culotta L, Scalmani P, Vinci E, Terragni B, Sessa A, Broccoli V, Mantegazza M, Boeckers T, Verpelli C, SULT4A1 Modulates Synaptic Development and Function by Promoting the Formation of PSD-95/NMDAR Complex. J Neurosci 2020 Sep; 40(37): 7013-7026.

2020

Zerimech S, Chever O, Scalmani P, Pizzamiglio L, Duprat F, Mantegazza M, Cholinergic modulation inhibits cortical spreading depression in mouse neocortex through activation of muscarinic receptors and decreased excitatory/inhibitory drive. Neuropharmacology 2020 Apr; 166(): 107951.

Mantegazza M, Broccoli V, SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models. Epilepsy 2019 Dec; 60 Supplement 3(): S25-S38.

Léna I, Mantegazza M, NaV1.2 haploinsufficiency in Scn2a knock-out mice causes an autistic-like phenotype attenuated with age. Sci Rep 2019 Sep; 9(1): 12886.

Marcuzzo S, Terragni B, Bonanno S, Isaia D, Cavalcante P, Cappelletti C, Ciusani E, Rizzo A, Regalia G, Yoshimura N, Ugolini GS, Rasponi M, Bechi G, Mantegazza M, Mantegazza R, Bernasconi P, Minati L , Hyperexcitability in Cultured Cortical Neuron Networks from the G93A-SOD1 Amyotrophic Lateral Sclerosis Model Mouse and its Molecular Correlates. Neuroscience 2019 Sep; 416(): 88-99.

Salgueiro-Pereira AR, Duprat F, Pousinha PA, Loucif A, Douchamps V, Regondi C, Ayrault M, Eugie M, Stunault MI, Escayg A, Goutagny R, Gnatkovsky V, Frassoni C, Marie H, Bethus I, Mantegazza M, A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. Neurobiol Dis 2019 May; 125(): 31-44.

2018

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M , Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Frances..., Rare coding variants in genes encoding GABAA receptors in genetic generalized epilepsies: an exome-based case-control study. Lancet Neurol 2018 Aug; 17(8): 699-708.

2018

Castagnola S, Delhaye S, Folci A, Paquet A, Brau F, Duprat F, Jarjat M, Grossi M, Béal M, Martin S, Mantegazza M, Bardoni B, Maurin T, New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons. Front Mol Neurosci 2018; 11(): 342.

2017

Montani C, Ramos-Brossier M, Ponzoni L, Gritti L, Cwetsch AW, Braida D, Saillour Y, Terragni B, Mantegazza M, Sala M, Verpelli C, Billuart P, Sala C, The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity. J Neurosci 2017 Jul; 37(28): 6606-6627.

2017

Kapetis D, Sassone J, Yang Y, Galbardi B, Network topology of NaV1.7 mutations in sodium channel-related painful disorders. BMC Syst Biol 2017 Feb; 11(1): 28.

2017

Khalfallah O, Jarjat M, Davidovic L, Nottet N, Cestèle S, Mantegazza M, Bardoni B, Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis. Stem Cells 2017 Feb; 35(2): 374-385.

2014

Guerrini R, Marini C, Mantegazza M, Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. Neurotherapeutics 2014 Apr; 11(2): 269-85.

Cestèle S, Schiavon E, Rusconi R, Franceschetti S, Mantegazza M, Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects. Proc Natl Acad Sci USA 2013 Oct; 110(43): 17546-51.

Partemi S, Cestèle S, Pezzella M, Campuzano O, Paravidino R, Pascali VL, Zara F, Tassinari CA, Striano S, Oliva A, Brugada R, Mantegazza M, Striano P, Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. Epilepsy 2013 Aug; 54(8): e112-6.

Liautard C, Scalmani P, Carriero G, de Curtis M, Franceschetti S, Mantegazza M, Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome. Epilepsy 2013 Jul; 54(7): 1251-61.

Cestèle S, Labate A, Rusconi R, Tarantino P, Mumoli L, Franceschetti S, Annesi G, Mantegazza M, Gambardella A, Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine. Epilepsy 2013 May; 54(5): 927-35.

Verpelli C, Carlessi L, Bechi G, Fusar Poli E, Orellana D, Heise C, Franceschetti S, Mantegazza R, Mantegazza M, Delia D, Sala C, Comparative neuronal differentiation of self-renewing neural progenitor cell lines obtained from human induced pluripotent stem cells. Front Cell Neurosci 2013; 7(): 175.

Colombo E, Franceschetti S, Avanzini G, Mantegazza M, Phenytoin inhibits the persistent sodium current in neocortical neurons by modifying its inactivation properties. PLoS One 2013;8(1):e55329.

2012

Goaillard JM, Groc L, Lévi S, Mantegazza M, Matifat F, Morel JL, Baron-Forster A, The 22nd ion channel meeting, September 2011, France., Channels (Austin) 2012; 6(3): 149-53.

2012

Bechi G, Scalmani P, Schiavon E, Rusconi R, Franceschetti S, Mantegazza M, Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. Epilepsy 2012 Jan; 53(1): 87-100.

2010

Marini C, Mantegazza M, Na+ channelopathies and epilepsy: recent advances and new perspectives. Expert Rev Clin Pharmacol 2010 May; 3(3): 371-84.

2010

Mantegazza M, Curia G, Biagini G, Ragsdale DS, Avoli M, Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders. Lancet Neurol 2010 Apr; 9(4): 413-24.

2009

Riva D, Vago C, Pantaleoni C, Bulgheroni S, Mantegazza M, Franceschetti S, Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. Am J Med Genet A 2009 Oct; 149A(10): 2339-45.

2009

Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, Tufik S, Yu FH, Catterall WA, Mantegazza M, Goldin AL, Escayg A, A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. Neurobiol Dis 2009 Jul; 35(1): 91-102.

2009

Rusconi R, Combi R, Cestèle S, Grioni D, Franceschetti S, Dalprà L, Mantegazza M, A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies? Hum Mutat 2009 Jul; 30(7): E747-60.

2008

Cestèle S, Scalmani P, Rusconi R, Terragni B, Franceschetti S, Mantegazza M, Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel. J Neurosci 2008 Jul; 28(29): 7273-83.

2007

Rusconi R, Scalmani P, Cassulini RR, Giunti G, Gambardella A, Franceschetti S, Annesi G, Wanke E, Mantegazza M, Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. J Neurosci 2007 Oct; 27(41): 11037-46.

2007

Colosimo E, Gambardella A, Mantegazza M, Labate A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A, Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. Epilepsy 2007 Sep; 48(9): 1691-1696.

2007

Avanzini G, Franceschetti S, Mantegazza M, Epileptogenic channelopathies: experimental models of human pathologies. Epilepsy 2007; 48 Suppl 2(): 51-64.

2006

Scalmani P, Rusconi R, Armatura E, Zara F, Avanzini G, Franceschetti S, Mantegazza M, Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. J Neurosci 2006 Oct; 26(40): 10100-9.

2006

Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA, Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 2006 Sep; 9(9): 1142-9.

Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A, Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci USA 2005 Dec; 102(50): 18177-82.

Mantegazza M, Cestèle S, Beta-scorpion toxin effects suggest electrostatic interactions in domain II of voltage-dependent sodium channels. J Physiol 2005 Oct; 568(Pt 1): 13-30.

Srairi-Abid N, Guijarro JI, Benkhalifa R, Mantegazza M, Cheikh A, Ben Aissa M, Haumont PY, Delepierre M, El Ayeb M, A new type of scorpion Na+-channel-toxin-like polypeptide active on K+ channels. Biochem J 2005 Jun; 388(Pt 2): 455-64.