Sökresultat - Lidia Carotenuto
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Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy av Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaëtan Lesca, Audrey Labalme, Dorothée Ville, Thomas Smol, Mélanie Rama, Anne Dieux‐Coëslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela
Publicerad 2022Artigo -
2
<i>In Silico</i> Assisted Identification, Synthesis, and <i>In Vitro</i> Pharmacological Characterization of Potent and Selective Blockers of the Epilepsy-Associated KCNT1 Channel av Nunzio Iraci, Lidia Carotenuto, Tania Ciaglia, Giorgio Belperio, Francesca Di Matteo, Ilaria Mosca, Giusy Carleo, Manuela Giovanna Basilicata, Paolo Ambrosino, Rita Turcio, Deborah Puzo, Giacomo Pepe, Isabel Gómez‐Monterrey, Maria Virginia Soldovieri, Veronica Di Sarno, Pietro Campiglia, Francesco Miceli, Alessia Bertamino, Carmine Ostacolo, Maurizio Taglialatela
Publicerad 2024Artigo -
3
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism av Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James J. Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van‐Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S. Møller, Allan Bayat, Orrin Devinsky, Tristan T. Sands, Georg Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva H. Brilstra, Gaëtan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Publicerad 2022Artigo
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Relaterade ämnen
Biology
Epilepsy
Gene
Neuroscience
Chemistry
Genetics
Medicine
Mutation
Autism
Biochemistry
Bioinformatics
Biophysics
Botany
Cell biology
Computational biology
Computer science
Developmental psychology
Electrophysiology
Epistemology
Gain of function
Hyperpolarization (physics)
Identification (biology)
In silico
In vitro
Intellectual disability
Language function
Language impairment
Mechanism (biology)
Membrane potential
Natural language processing