Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

by Maria Cristina D’Adamo, Antonella Liantonio, Jean-Francois Rolland, Mauro Pessia, Paola Imbrici
Published 2020-04-01

Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

by Sonia Hasan, Therese Hunter, Gary Hunter, Mauro Pessia, Mauro Pessia, Maria Cristina D'Adamo
Published 2018-06-01

K+ CHANNELEPSY: progress in the neurobiology of potassium channels and epilepsy

by Maria Cristina D'Adamo, Luigi eCatacuzzeno, Giuseppe eDi Giovanni, Fabio eFranciolini, Mauro ePessia
Published 2013-09-01

Dexamethasone in Glioblastoma Multiforme Therapy: Mechanisms and Controversies

by Marta Cenciarini, Mario Valentino, Silvia Belia, Luigi Sforna, Paolo Rosa, Simona Ronchetti, Maria Cristina D’Adamo, Mauro Pessia, Mauro Pessia
Published 2019-03-01

Update on the implication of potassium channels in autism: K+ channelautism spectrum disorder

by Luca eGuglielmi, Ilenio eServettini, Martino eCaramia, Luigi eCatacuzzeno, Fabio eFranciolini, Maria Cristina D'Adamo, Mauro ePessia
Published 2015-03-01

New insights into the pathogenesis and therapeutics of Episodic Ataxia type 1.

by Maria Cristina D'Adamo, Sonia eHasan, Luca eGuglielmi, Ilenio eServettini, Marta eCenciarini, Luigi eCatacuzzeno, Fabio eFranciolini
Published 2015-08-01

The role of ion channels in the hypoxia-induced aggressiveness of glioblastoma

by Luigi eSforna, Marta eCenciarini, Silvia eBelia, Maria Cristina D'Adamo, Mauro ePessia, Fabio eFranciolini, Luigi eCatacuzzeno
Published 2015-01-01

A Novel <i>KCNA2</i> Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

by Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D’Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni
Published 2021-09-01

<i>Kcnj16</i> (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa

by Giulia Poli, Sonia Hasan, Silvia Belia, Marta Cenciarini, Stephen J. Tucker, Paola Imbrici, Safa Shehab, Mauro Pessia, Stefano Brancorsini, Maria Cristina D'Adamo
Published 2021-06-01

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

by Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D’Adamo
Published 2017-07-01

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

by Claudia Stendel, Maria Cristina D’Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock, Mauro Pessia
Published 2020-05-01

Reconciling the discrepancies on the involvement of large-conductance Ca2+-activated K+ channels in glioblastoma cell migration

by Luigi eCatacuzzeno, Martino eCaramia, Luigi eSforna, Silvia eBelia, Luca eGuglielmi, Maria Cristina D'Adamo, Mauro ePessia, Fabio eFranciolini
Published 2015-04-01

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

by Federico Sicca, Paola Imbrici, Maria Cristina D'Adamo, Francesca Moro, Fabrizia Bonatti, Paola Brovedani, Alessandro Grottesi, Renzo Guerrini, Gabriele Masi, Filippo Maria Santorelli, Mauro Pessia
Published 2011-07-01

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

by Orazio Brunetti, Paola Imbrici, Fabio Massimo Botti, Vito Enrico Pettorossi, Maria Cristina D'Adamo, Mario Valentino, Christian Zammit, Marina Mora, Sara Gibertini, Giuseppe Di Giovanni, Richard Muscat, Mauro Pessia
Published 2012-09-01

<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

by Lisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, Silvia De Rubeis, Joseph Buxbaum, Cecilia Mancini, Alessandro Bruselles, Marco Tartaglia, Mauro Pessia, Stephen J. Tucker, Maria Cristina D’Adamo, Alfredo Brusco
Published 2021-06-01

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 Channel

by Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo
Published 2021-01-01

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.

by Maria Cristina D'Adamo, Luigi Sforna, Sergio Visentin, Alessandro Grottesi, Llenio Servettini, Luca Guglielmi, Lara Macchioni, Simona Saredi, Maurizio Curcio, Chiara De Nuccio, Sonia Hasan, Lanfranco Corazzi, Fabio Franciolini, Marina Mora, Luigi Catacuzzeno, Mauro Pessia
Published 2016-01-01

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

by Maria Cristina D'Adamo, Maria Cristina D'Adamo, Constanze eGallenmueller, Constanze eGallenmueller, Constanze eGallenmueller, Ilenio eServettini, Elisabeth eHartl, Stephen eTucker, Larissa eArning, Saskia eBiskup, Alessandro eGrottesi, Luca eGuglielmi, Paola eImbrici, Pia eBernasconi, Giuseppe eDi Giovanni, Giuseppe eDi Giovanni, Fabio eFranciolini, Luigi eCatacuzzeno, Mauro ePessia, Mauro ePessia, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock
Published 2015-01-01