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Authors whose works are in public domain in at least one jurisdiction

List of works by Massimo Mantegazza

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

scientific article published on 3 May 2009

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

scientific article published on June 2005

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

scientific article published on July 2009

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

scientific article published on 17 January 2019

Action potential initiation in neocortical inhibitory interneurons.

scientific article

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

scientific article published on December 1996

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

scientific article published in February 1998

Beta-scorpion toxin effects suggest electrostatic interactions in domain II of voltage-dependent sodium channels.

scientific article published on 14 July 2005

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

scientific article published on 13 January 2020

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

scientific article published on 07 October 2013

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

scientific article published in Scientific Reports

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis

scientific article published on 24 September 2016

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

scientific article published on 08 February 2013

Dravet syndrome: insights from in vitro experimental models.

scientific article published on April 2011

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

scientific article published in October 2006

Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.

scientific article published on 12 June 2007

Epilepsy: Advances in genetics and pathophysiology

scientific article published on 17 October 2017

Epileptogenic channelopathies: experimental models of human pathologies.

scientific article published on January 2007

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

scientific article published on September 15, 2010

First chemical synthesis of a scorpion alpha-toxin affecting sodium channels: the Aah I toxin of Androctonus australis hector

scientific article published in November 2004

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

scientific article published on 17 July 2014

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

scientific article published on 9 July 2018

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models

scientific article

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

scientific article published on 10 May 2013

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

scientific article published on 10 February 2019

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

scientific article

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).

scientific article published on 23 September 2017

Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation

scientific article

Layer-specific properties of the persistent sodium current in sensorimotor cortex.

scientific article published on 8 February 2006

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

scientific article published on August 2013

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

scientific article published on February 1, 1998

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

scientific article published on 27 July 2021

Modeling cortical spreading depression induced by the hyperactivity of interneurons

scientific article published on 17 October 2019

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant

scientific article published on 01 October 2007

Molecular determinants for modulation of persistent sodium current by G-protein betagamma subunits.

scientific article

Muscarinic regulation of Ca2+ currents in rat sensory neurons: channel and receptor types, dose-response relationships and cross-talk pathways

scientific article published on 01 March 1994

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

scientific article published on May 2010

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

scientific article published on 09 September 2019

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

scientific article

New Insights Into the Role of Ca2 Protein Family in Calcium Flux Deregulation in -KO Neurons

scientific article published on 27 September 2018

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

scientific article published on 07 October 2013

Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences.

scientific article published on 9 November 2017

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

scientific article

Phenytoin inhibits the persistent sodium current in neocortical neurons by modifying its inactivation properties

scientific article

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

scientific article

Post-translational dysfunctions in channelopathies of the nervous system

scientific article published on 29 May 2017

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

scientific article published in October 2009

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

scientific article

Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations

scientific article published on 9 December 2011

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

scientific article

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

article

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

scientific journal article

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

scientific article

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

scientific article

SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models

scientific article published on 01 December 2019

SULT4A1 modulates synaptic development and function by promoting the formation of PSD-95/NMDAR complex

scientific article published on 12 August 2020

Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel

scientific article

The 22nd ion channel meeting, september 2011, france

scientific article published on May 2012

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

scientific article published on 2 June 2017

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

scientific article published on 13 June 2022

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

scientific article published on 15 May 2017

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

scientific article published on 26 January 2016

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

scientific article published in September 1998

Voltage-Gated Na+ Channels: Structure, Function, and Pathophysiology

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

scientific article published on April 2010

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

scientific article published on 30 May 2018

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