Laura Manocchio

Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

Francesca Rizzo, Paolo Ambrosino, Anna Guacci et al. · Molecular and Cellular Neuroscience · 2016 · 109 citations

Developmental Biology, Genetic Disorder, Genetics +4

Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate

Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca et al. · Scientific Reports · 2016 · 49 citations · Full text

De novo gain‐of‐function variants in <i>KCNT2</i> as a novel cause of developmental and epileptic encephalopathy

Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast et al. · Annals of Neurology · 2018 · 47 citations

Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin

Paolo Ambrosino, Alessandro Alaimo, Silvia Bartollino et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2015 · 44 citations

Synaptic Plasticity, Molecular Neuroscience, Signal Transduction +13

Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating

Paolo Ambrosino, Elena Freri, Barbara Castellotti et al. · Molecular Neurobiology · 2018 · 29 citations

Signal Transduction, Molecular Physiology, Molecular Neuroscience +8