All Stories

  1. Perturbed interneurons' activity leads to seizures in Dravet syndr.: biomarker for their prediction.

    Article • Proceedings of the National Academy of Sciences, May 2024, Proceedings of the National Academy of Sciences

    Massimo Mantegazza

  2. Sudden brainstem malfunction explains life-threatening apnea

    Article • Proceedings of the National Academy of Sciences, March 2024, Proceedings of the National Academy of Sciences

    Nico Jansen, Massimo Mantegazza

  3. Neurodevelopmental defects in Dravet syndromeScn1a+/-mice: selective rescue of behavioral alterations but not seizures by targeting GABA-switch

    Article • March 2024, Cold Spring Harbor Laboratory Press

    Massimo Mantegazza

  4. Sex-specific behavioral features of juvenile and adult haploinsufficientScn2a+/−female mice, model of Autism Spectrum Disorder

    Article • December 2023, Cold Spring Harbor Laboratory Press

    Massimo Mantegazza

  5. Are we there yet? A critical evaluation of sudden and unexpected death in epilepsy models

    Article • Epilepsia, November 2023, Wiley

    Massimo Mantegazza

  6. Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to Low-Voltage-Fast onset seizures in Dravet syndrome

    Article • September 2023, Cold Spring Harbor Laboratory Press

    Massimo Mantegazza

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

    Article • Biomedicine & Pharmacotherapy, September 2023, Elsevier

    Massimo Mantegazza

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

    Article • Journal of Neurochemistry, August 2023, Wiley

    Massimo Mantegazza

  9. Idealized multiple-timescale model of cortical spreading depolarization initiation and pre-epileptic hyperexcitability caused by NaV1.1/SCN1A mutations

    Article • Journal of Mathematical Biology, May 2023, Springer Science + Business Media

    Massimo Mantegazza

  10. Involvement of GABAergic Interneuron Subtypes in 4-Aminopyridine-Induced Seizure-Like Events in Mouse Entorhinal Cortexin Vitro

    Article • Journal of Neuroscience, February 2023, Society for Neuroscience

    Massimo Mantegazza

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

    Article • Epilepsia, January 2023, Wiley

    Massimo Mantegazza

  12. Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

    Article • Physiological Reviews, January 2023, American Physiological Society

    Massimo Mantegazza

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

    Article • Brain, October 2022, Oxford University Press (OUP)

    Massimo Mantegazza

  14. A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

    Article • Epilepsia Open, October 2022, Wiley

    Massimo Mantegazza

  15. A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3‐WG1B: Paediatric and genetic models working group of the ILAE/AES joint translational TASK force

    Article • Epilepsia Open, September 2022, Wiley

    Massimo Mantegazza

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

    Article • Brain, June 2022, Oxford University Press (OUP)

    Massimo Mantegazza

  17. A python-based package for long-lasting video acquisition and semi-automated detection of convulsive seizures in rodents

    Article • April 2022, Cold Spring Harbor Laboratory Press

    Massimo Mantegazza

  18. Rescuing epileptic and behavioral alterations in a Dravet syndrome mouse model by inhibiting eukaryotic elongation factor 2 kinase (eEF2K)

    Article • Molecular Autism, January 2022, Springer Science + Business Media

    Massimo Mantegazza

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

    Article • Journal of Clinical Investigation, November 2021, American Society for Clinical Investigation

    Massimo Mantegazza

  20. Sodium channelopathies of skeletal muscle and brain

    Article • Physiological Reviews, October 2021, American Physiological Society

    Massimo Mantegazza

  21. 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

    Article • PLoS Computational Biology, July 2021, PLOS

    Massimo Mantegazza

  22. Rescuing epileptic and behavioral alterations in a Dravet syndrome mouse model by inhibiting eukaryotic eEF2K

    Article • July 2021, Cold Spring Harbor Laboratory Press

    Massimo Mantegazza

  23. Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients

    Article • International Journal of Molecular Sciences, May 2021, MDPI AG

    Massimo Mantegazza

  24. Fluorescent‐ and tagged‐protoxin II peptides: potent markers of the Nav1.7 channel pain target

    Article • British Journal of Pharmacology, May 2021, Wiley

    Massimo Mantegazza

  25. SULT4A1 Modulates Synaptic Development and Function by Promoting the Formation of PSD-95/NMDAR Complex

    Article • Journal of Neuroscience, August 2020, Society for Neuroscience

    Massimo Mantegazza

  26. Cholinergic modulation inhibits cortical spreading depression in mouse neocortex through activation of muscarinic receptors and decreased excitatory/inhibitory drive

    Article • Neuropharmacology, April 2020, Elsevier

    Massimo Mantegazza

  27. GABAergic neurons and NaV1.1 channel hyperactivity: a novel neocortex-specific mechanism of Cortical Spreading Depression

    Article • March 2020, Cold Spring Harbor Laboratory Press

    Massimo Mantegazza

  28. SCN1A/NaV1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models

    Article • Epilepsia, December 2019, Wiley

    Massimo Mantegazza

  29. Modeling cortical spreading depression induced by the hyperactivity of interneurons

    Article • Journal of Computational Neuroscience, October 2019, Springer Science + Business Media

    Massimo Mantegazza

  30. NaV1.2 haploinsufficiency in Scn2a knock-out mice causes an autistic-like phenotype attenuated with age

    Article • Scientific Reports, September 2019, Springer Science + Business Media

    Massimo Mantegazza

  31. Hyperexcitability in Cultured Cortical Neuron Networks from the G93A-SOD1 Amyotrophic Lateral Sclerosis Model Mouse and its Molecular Correlates

    Article • Neuroscience, September 2019, Elsevier

    Massimo Mantegazza

  32. A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies

    Article • Neurobiology of Disease, May 2019, Elsevier

    Massimo Mantegazza

  33. Animal Models of Causation of Epilepsy

    Article • April 2019, Cambridge University Press

    Massimo Mantegazza

  34. SULTA4A1 modulates synaptic development and function by promoting the formation of PSD-95/NMDAR complex

    Article • March 2019, Cold Spring Harbor Laboratory Press

    Massimo Mantegazza

  35. Hyperactive and anxiolytic‐like behaviors result from loss of COUP‐TFI/Nr2f1 in the mouse cortex

    Article • Genes Brain & Behavior, February 2019, Wiley

    Massimo Mantegazza

  36. DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients

    Article • Scientific Reports, January 2019, Springer Science + Business Media

    Massimo Mantegazza

  37. A gain-of-function sodium channelβ2-subunit mutation in painful diabetic neuropathy

    Article • Molecular Pain, January 2019, SAGE Publications

    Roberta Gualdani, Massimo Mantegazza

  38. New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons

    Article • Frontiers in Molecular Neuroscience, September 2018, Frontiers

    Massimo Mantegazza

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

    Article • The Lancet Neurology, August 2018, Elsevier

    Massimo Mantegazza

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

    Article • Frontiers in Molecular Neuroscience, July 2018, Frontiers

    Massimo Mantegazza

  41. iPSC-derived neurons of CREBBP - and EP300 -mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

    Article • Stem Cell Research, July 2018, Elsevier

    Massimo Mantegazza

  42. Post-translational dysfunctions in channelopathies of the nervous system

    Article • Neuropharmacology, April 2018, Elsevier

    Massimo Mantegazza

  43. Epilepsy: Advances in genetics and pathophysiology

    Article • Neuroscience Letters, February 2018, Elsevier

    Massimo Mantegazza

  44. Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences

    Article • Neuroscience Letters, February 2018, Elsevier

    Massimo Mantegazza

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

    Article • Neuroscience Letters, February 2018, Elsevier

    Massimo Mantegazza

  46. Revealing the involvement of miR-376a, miR-432 and miR-451a in infantile ascending hereditary spastic paralysis by microRNA profiling in iPSCs

    Article • Journal of Translational Science, January 2018, Open Access Text Pvt, Ltd.

    Massimo Mantegazza

  47. Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE)

    Article • Brain Research, December 2017, Elsevier

    Massimo Mantegazza

  48. The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity

    Article • Journal of Neuroscience, June 2017, Society for Neuroscience

    Massimo Mantegazza

  49. Homer1b/c clustering is impaired in Phelan-McDermid Syndrome iPSCs derived neurons

    Article • Molecular Psychiatry, April 2017, Springer Science + Business Media

    Massimo Mantegazza

  50. Network topology of NaV1.7 mutations in sodium channel-related painful disorders

    Article • BMC Systems Biology, February 2017, Springer Science + Business Media

    Professor Rayaz Ahmed Malik, Massimo Mantegazza

  51. Sodium channels and channelopathies: Neuropathic pain, epilepsies, migraine

    Article • Douleur et Analgésie, December 2016, John Libbey Eurotext

    Massimo Mantegazza

  52. Ranolazine vs phenytoin: greater effect of ranolazine on the transient Na+ current than on the persistent Na+ current in central neurons

    Article • Neuropharmacology, November 2016, Elsevier

    Massimo Mantegazza

  53. A cell model for Fragile X syndrome

    Article • Stem Cells, October 2016, Wiley

    DR Barbara Bardoni, Nicolas Nottet, Massimo Mantegazza

  54. Erratum: Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice

    Article • Molecular Psychiatry, April 2016, Springer Science + Business Media

    Massimo Mantegazza

  55. Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice

    Article • Molecular Psychiatry, March 2016, Springer Science + Business Media

    Massimo Mantegazza

  56. Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy

    Article • Cerebral Cortex, January 2016, Oxford University Press (OUP)

    Massimo Mantegazza

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

    Article • Neurobiology of Disease, March 2015, Elsevier

    Massimo Mantegazza

  58. Mutations of Ion Channels in Genetic Epilepsies

    Article • December 2014, Springer Science + Business Media

    Massimo Mantegazza

  59. Impaired Action Potential Initiation in GABAergic Interneurons Causes Hyperexcitable Networks in an Epileptic Mouse Model Carrying a Human NaV1.1 Mutation

    Article • Journal of Neuroscience, November 2014, Society for Neuroscience

    Massimo Mantegazza

  60. Action Potential Initiation in Neocortical Inhibitory Interneurons

    Article • PLoS Biology, September 2014, PLOS

    Massimo Mantegazza

  61. Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency

    Article • Cell Death and Disease, July 2014, Springer Science + Business Media

    Massimo Mantegazza

  62. Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

    Article • Neurotherapeutics, April 2014, Elsevier

    Massimo Mantegazza

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

    Article • Proceedings of the National Academy of Sciences, October 2013, Proceedings of the National Academy of Sciences

    Massimo Mantegazza

  64. Loss‐of‐function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

    Article • Epilepsia, July 2013, Wiley

    Massimo Mantegazza

  65. Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome

    Article • Epilepsia, May 2013, Wiley

    Massimo Mantegazza

  66. Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine

    Article • Epilepsia, February 2013, Wiley

    Massimo Mantegazza

  67. Phenytoin Inhibits the Persistent Sodium Current in Neocortical Neurons by Modifying Its Inactivation Properties

    Article • PLoS ONE, January 2013, PLOS

    Massimo Mantegazza

  68. Comparative neuronal differentiation of self-renewing neural progenitor cell lines obtained from human induced pluripotent stem cells

    Article • Frontiers in Cellular Neuroscience, January 2013, Frontiers

    Massimo Mantegazza

  69. The 22nd Ion Channel Meeting, September 2011, France

    Article • Channels, May 2012, Taylor & Francis

    Massimo Mantegazza

  70. Pure haploinsufficiency for Dravet syndrome NaV1.1 (SCN1A) sodium channel truncating mutations

    Article • Epilepsia, December 2011, Wiley

    Massimo Mantegazza

  71. Dravet syndrome: Insights from in vitro experimental models

    Article • Epilepsia, April 2011, Wiley

    Massimo Mantegazza

  72. Voltage‐gated Na+ channels and epilepsy

    Article • Epilepsia, December 2010, Wiley

    Massimo Mantegazza

  73. Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again

    Article • Epilepsy Research, November 2010, Elsevier

    Massimo Mantegazza

  74. Na+channelopathies and epilepsy: recent advances and new perspectives

    Article • Expert Review of Clinical Pharmacology, May 2010, Taylor & Francis

    Massimo Mantegazza

  75. Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders

    Article • The Lancet Neurology, April 2010, Elsevier

    Massimo Mantegazza

  76. Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

    Article • American Journal of Medical Genetics Part A, September 2009, Wiley

    Massimo Mantegazza

  77. A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

    Article • Neurobiology of Disease, July 2009, Elsevier

    Massimo Mantegazza

  78. A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Nav1.1 related epilepsies?

    Article • Human Mutation, July 2009, Hindawi Publishing Corporation

    Massimo Mantegazza

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

    Article • Journal of Neuroscience, July 2008, Society for Neuroscience

    Massimo Mantegazza

  80. Modulatory Proteins Can Rescue a Trafficking Defective Epileptogenic Nav1.1 Na+Channel Mutant

    Article • Journal of Neuroscience, October 2007, Society for Neuroscience

    Massimo Mantegazza

  81. Electroclinical Features of a Family with Simple Febrile Seizures and Temporal Lobe Epilepsy Associated with SCN1A Loss-of-Function Mutation

    Article • Epilepsia, June 2007, Wiley

    Massimo Mantegazza

  82. Epileptogenic Channelopathies: Experimental Models of Human Pathologies

    Article • Epilepsia, April 2007, Wiley

    Massimo Mantegazza

  83. Phosphorylation of sodium channels mediated by protein kinase‐C modulates inhibition by topiramate of tetrodotoxin‐sensitive transient sodium current

    Article • British Journal of Pharmacology, March 2007, Wiley

    Massimo Mantegazza

  84. Erratum: Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

    Article • Nature Neuroscience, January 2007, Springer Science + Business Media

    Massimo Mantegazza

  85. Effects in Neocortical Neurons of Mutations of the Nav1.2 Na+Channel causing Benign Familial Neonatal-Infantile Seizures

    Article • Journal of Neuroscience, October 2006, Society for Neuroscience

    Massimo Mantegazza

  86. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

    Article • Nature Neuroscience, August 2006, Springer Science + Business Media

    Massimo Mantegazza

  87. Layer-Specific Properties of the Persistent Sodium Current in Sensorimotor Cortex

    Article • Journal of Neurophysiology, June 2006, American Physiological Society

    Massimo Mantegazza

  88. Identification of an Na v 1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

    Article • Proceedings of the National Academy of Sciences, December 2005, Proceedings of the National Academy of Sciences

    Massimo Mantegazza

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

    Article • The Journal of Physiology, September 2005, Wiley

    Massimo Mantegazza

  90. A new type of scorpion Na+-channel-toxin-like polypeptide active on K+ channels

    Article • Biochemical Journal, May 2005, Portland Press Ltd.

    Massimo Mantegazza

  91. Molecular Determinants for Modulation of Persistent Sodium Current by G-Protein βγ Subunits

    Article • Journal of Neuroscience, March 2005, Society for Neuroscience

    Massimo Mantegazza

  92. First chemical synthesis of a scorpion α‐toxin affecting sodium channels: The Aah I toxin of Androctonus australis hector

    Article • Journal of Peptide Science, June 2004, Wiley

    Massimo Mantegazza

  93. Protein-kinase C-dependent phosphorylation inhibits the effect of the antiepileptic drug topiramate on the persistent fraction of sodium currents

    Article • Neuroscience, January 2004, Elsevier

    Massimo Mantegazza

  94. Role of the C-terminal domain in inactivation of brain and cardiac sodium channels

    Article • Proceedings of the National Academy of Sciences, December 2001, Proceedings of the National Academy of Sciences

    Massimo Mantegazza

  95. Neutralization of Gating Charges in Domain II of the Sodium Channel α Subunit Enhances Voltage-Sensor Trapping by a β-Scorpion Toxin

    Article • The Journal of General Physiology, August 2001, Rockefeller University Press

    Massimo Mantegazza

  96. Valproate selectively reduces the persistent fraction of Na+ current in neocortical neurons

    Article • Epilepsy Research, September 1998, Elsevier

    Massimo Mantegazza

  97. Modalities of Distortion of Physiological Voltage Signals by Patch-Clamp Amplifiers: A Modeling Study

    Article • Biophysical Journal, February 1998, Elsevier

    Massimo Mantegazza

  98. Anemone toxin (ATX II)‐induced increase in persistent sodium current: effects on the firing properties of rat neocortical pyramidal neurones

    Article • The Journal of Physiology, February 1998, Wiley

    Massimo Mantegazza

  99. Action potentials recorded with patch-clamp amplifiers: are they genuine?

    Article • Trends in Neurosciences, December 1996, Elsevier

    Massimo Mantegazza

  100. Stimulation of single L-type calcium channels in rat pituitary GH3 cells by thyrotropin-releasing hormone.

    Article • The EMBO Journal, March 1995, Springer Science + Business Media

    Massimo Mantegazza

  101. Muscarinic Regulation of Ca2+Currents in Rat Sensory Neurons: Channel and Receptor Types, Dose - response Relationships and Cross-talk Pathways

    Article • European Journal of Neuroscience, March 1994, Wiley

    Massimo Mantegazza