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Frontiers in Pharmacology|June 30, 2022
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic PhenotypesIlaria Mosca, Ilaria Rivolta, Audrey Labalme, et al.
Molecular and Cellular Neurosciences|January 20, 2016
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancyFrancesca Rizzo, Paolo Ambrosino, Anna Guacci, et al.
Biochimica Et Biophysica Acta|June 16, 2015
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulinPaolo Ambrosino, Alessandro Alaimo, Silvia Bartollino, et al.
Annals of Neurology|May 10, 2018
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathyPaolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, et al.
Epilepsia|November 19, 2016
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variantJohn J Millichap, Francesco Miceli, Michela De Maria, et al.
Annals of Neurology|February 21, 2025
Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label StudyMarina Trivisano, Ilaria Mosca, Licia Salimbene, et al.
Journal of Molecular and Cellular Cardiology|July 16, 2016
β-Adrenergic response is counteracted by extremely-low-frequency pulsed electromagnetic fields in beating cardiomyocytesMarisa Cornacchione, Manuela Pellegrini, Lorenzo Fassina, et al.
Frontiers in Cellular Neuroscience|February 10, 2025
Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genesIlaria Filareto, Ilaria Mosca, Elena Freri, et al.
Frontiers in Cellular Neuroscience|April 22, 2024
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsyIlaria Mosca, Elena Freri, Paolo Ambrosino, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 27, 2024
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathyMario Nappi, Giulio Alberini, Alessandro Berselli, et al.
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