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

Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation

by Elena Conte, Adriano Fonzino, Antonio Cibelli, Vito De Benedictis, Paola Imbrici, Grazia Paola Nicchia, Sabata Pierno, Giulia Maria Camerino
Published 2020-05-01

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

Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy

by Elena Conte, Alessandra Pannunzio, Paola Imbrici, Giulia Maria Camerino, Lorenzo Maggi, Marina Mora, Sara Gibertini, Ornella Cappellari, Annamaria De Luca, Mauro Coluccia, Antonella Liantonio
Published 2021-02-01

Functional Study of Novel Bartter’s Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine

by Dalila Sahbani, Bice Strumbo, Silvana Tedeschi, Elena Conte, Giulia Maria Camerino, Elisa Benetti, Giovanni Montini, Giovanni Montini, Gabriella Aceto, Giuseppe Procino, Paola Imbrici, Antonella Liantonio
Published 2020-03-01

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

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

by Zeynep S. Karalok, Alfredo Megaro, Marta Cenciarini, Alev Guven, Sonia M. Hasan, Birce D. Taskin, Paola Imbrici, Serdar Ceylaner, Mauro Pessia, Mauro Pessia, Maria C. D'Adamo
Published 2018-07-01

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

by Concetta Altamura, Evgeniya A. Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Elena L. Dadali, Alexander V. Polyakov, Sergei Aleksandrovich Kurbatov, Francesco Girolamo, Maria Rosaria Carratù, Jean-François Desaphy
Published 2020-09-01

Mutations in <i>MYBPC3</i> and <i>MYH7</i> in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

by Marianna Farnè, Cristina Balla, Alice Margutti, Rita Selvatici, Martina De Raffele, Assunta Di Domenico, Paola Imbrici, Elia De Maria, Mauro Biffi, Matteo Bertini, Claudio Rapezzi, Alessandra Ferlini, Francesca Gualandi
Published 2021-09-01

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

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

Functional Characterization of Two Novel Mutations in <i>SCN5A</i> Associated with Brugada Syndrome Identified in Italian Patients

by Cristina Balla, Elena Conte, Rita Selvatici, Renè Massimiliano Marsano, Andrea Gerbino, Marianna Farnè, Rikard Blunck, Francesco Vitali, Annarita Armaroli, Alessandro Brieda, Antonella Liantonio, Annamaria De Luca, Alessandra Ferlini, Claudio Rapezzi, Matteo Bertini, Francesca Gualandi, Paola Imbrici
Published 2021-06-01

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

by Tracey D. Graves, Paola Imbrici, Esther E. Kors, Gisela M. Terwindt, Louise H. Eunson, Rune R. Frants, Joost Haan, Michel D. Ferrari, Peter J. Goadsby, Michael G. Hanna, Arn M.J.M. van den Maagdenberg, Dimitri M. Kullmann
Published 2008-10-01