Lista de obras - Massimo Mantegazza - Dominio Público Uruguay

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2019

Action potential initiation in neocortical inhibitory interneurons.

artículo científico publicado en 2014

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

artículo científico publicado en 1996

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

artículo científico publicado en 1998

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado el 8 de febrero de 2013

Dravet syndrome: insights from in vitro experimental models.

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Epilepsy: Advances in genetics and pathophysiology

artículo científico publicado en 2017

Epileptogenic channelopathies: experimental models of human pathologies.

artículo científico publicado en 2007

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

artículo científico publicado el 15 de septiembre de 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2005

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).

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado el 1 de febrero de 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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 1994

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

artículo científico

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Post-translational dysfunctions in channelopathies of the nervous system

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2008

The 22nd ion channel meeting, september 2011, france

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2022

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 1998

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

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Lista de obras de Massimo Mantegazza

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

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

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

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

Action potential initiation in neocortical inhibitory interneurons.

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

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

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

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

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

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

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

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

Dravet syndrome: insights from in vitro experimental models.

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

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

Epilepsy: Advances in genetics and pathophysiology

Epileptogenic channelopathies: experimental models of human pathologies.

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

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

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

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

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

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

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

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

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).

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

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

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

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

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

Modeling cortical spreading depression induced by the hyperactivity of interneurons

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

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

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

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

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

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

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

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

Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences.

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

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

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

Post-translational dysfunctions in channelopathies of the nervous system

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

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

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

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

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

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

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

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

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

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

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

The 22nd ion channel meeting, september 2011, france

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

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

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

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

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

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

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

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