Sfoglia per Autore
Kv7 channel activation reduces brain endothelial cell permeability and prevents kainic acid-induced blood-brain barrier damage
2024 Celentano, Camilla; Carotenuto, Lidia; Miceli, Francesco; Carleo, Giusy; Corrado, Brunella; Baroli, Giulia; Iervolino, Stefania; Vecchione, Raffaele; Taglialatela, Maurizio; Barrese, Vincenzo
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment
2024 Bayat, Allan; Iavarone, Stefano; Miceli, Francesco; Jakobsen, Anne V; Johannesen, Katrine M; Nikanorova, Marina; Ploski, Rafal; Szymanska, Krystyna; Flamini, Robert; Cooper, Edward C; Weckhuysen, Sarah; Taglialatela, Maurizio; Møller, Rikke S
GAIN-OF-FUNCTION DUE TO INCREASED OPENING PROBABILITY BY TWO KCNQ5 PORE VARIANTS CAUSING DEVELOPMENTAL AND/OR EPILEPTIC ENCEPHALOPATHY
2022 Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lescab, Gaetan; Labalmeb, Audrey; Villec, Dorothée; Smold, Thomas; Ramad, Mélanie; Dieux-Coesliere, Anne; Rivier-Ringenbachf, Clotilde; Virginia Soldovieri, Maria; Ambrosino, Paolo; Mosca, Ilaria; Puschi, Michael; Miceli, Francesco; Taglialatela, Maurizio
Kv7.4 channels regulate potassium permeability in neuronal mitochondria
2022 Paventi, G.; Soldovieri, M. V.; Servettini, I.; Barrese, V.; Miceli, F.; Sisalli, M. J.; Ambrosino, P.; Mosca, I.; Vinciguerra, I.; Testai, L.; Scorziello, A.; Raimo, G.; Calderone, V.; Passarella, S.; Taglialatela, M.
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
2022 Miceli, Francesco; Millevert, Charissa; Soldovieri, Maria Virginia; Mosca, Ilaria; Ambrosino, Paolo; Carotenuto, Lidia; Schrader, Dewi; Lee, Hyun Kyung; Riviello, James; Hong, William; Risen, Sarah; Emrick, Lisa; Amin, Hitha; Ville, Dorothée; Edery, Patrick; de Bellescize, Julitta; Michaud, Vincent; Van-Gils, Julien; Goizet, Cyril; Willemsen, Marjolein H; Kleefstra, Tjitske; Møller, Rikke S; Bayat, Allan; Devinsky, Orrin; Sands, Tristan; Korenke, G Christoph; Kluger, Gerhard; Mefford, Heather C; Brilstra, Eva; Lesca, Gaetan; Milh, Mathieu; Cooper, Edward C; Taglialatela, Maurizio; Weckhuysen, Sarah
Beyond Retigabine: Design, Synthesis, and Pharmacological Characterization of a Potent and Chemically Stable Neuronal Kv7 Channel Activator with Anticonvulsant Activity
2022 Musella, Simona; Carotenuto, Lidia; Iraci, Nunzio; Baroli, Giulia; Ciaglia, Tania; Nappi, Piera; Basilicata, Manuela Giovanna; Salviati, Emanuela; Barrese, Vincenzo; Vestuto, Vincenzo; Pignataro, Giuseppe; Pepe, Giacomo; Sommella, Eduardo; Di Sarno, Veronica; Manfra, Michele; Campiglia, Pietro; Gomez-Monterrey, Isabel; Bertamino, Alessia; Taglialatela, Maurizio; Ostacolo, Carmine; Miceli, Francesco
Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother
2021 Longobardi, Elena; Miceli, Francesco; Secondo, Agnese; Cicatiello, Rita; Izzo, Antonella; Tinto, Nadia; Moutton, Sebastien; Tran Mau-Them, Frédéric; Vitobello, Antonio; Taglialatela, Maurizio
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants
2021 Miceli, F.; Guerrini, R.; Nappi, M.; Soldovieri, M. V.; Cellini, E.; Gurnett, C. A.; Parmeggiani, L.; Mei, D.; Taglialatela, M.
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate
2020 Miceli, F.; Carotenuto, L.; Barrese, V.; Soldovieri, M. V.; Heinzen, E. L.; Mandel, A. M.; Lippa, N.; Bier, L.; Goldstein, D. B.; Cooper, E. C.; Cilio, M. R.; Taglialatela, M.; Sands, T. T.
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction
2020 Nappi, P.; Miceli, F.; Soldovieri, M. V.; Ambrosino, P.; Barrese, V.; Taglialatela, M.
Synthesis and Pharmacological Characterization of Conformationally Restricted Retigabine Analogues as Novel Neuronal Kv7 Channel Activators
2020 Ostacolo, C.; Miceli, F.; DI SARNO, Valentina; Nappi, P.; Iraci, N.; Soldovieri, M. V.; Ciaglia, T.; Ambrosino, P.; Vestuto, V.; Lauritano, A.; Musella, S.; Pepe, G.; Basilicata, M. G.; Manfra, M.; Perinelli, D. R.; Novellino, E.; Bertamino, A.; Gomez-Monterrey, I. M.; Campiglia, P.; Taglialatela, M.
The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding
2020 Dirkx, N; Miceli, F; Taglialatela, M; Weckhuysen, S
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
2020 Malerba, Federica; Alberini, Giulio; Balagura, Ganna; Marchese, Francesca; Amadori, Elisabetta; Riva, Antonella; Vari, Maria Stella; Gennaro, Elena; Madia, Francesca; Salpietro, Vincenzo; Angriman, Marco; Giordano, Lucio; Accorsi, Patrizia; Trivisano, Marina; Specchio, Nicola; Russo, Angelo; Gobbi, Giuseppe; Raviglione, Federico; Pisano, Tiziana; Marini, Carla; Mancardi, Maria M; Nobili, Lino; Freri, Elena; Castellotti, Barbara; Capovilla, Giuseppe; Coppola, Antonietta; Verrotti, Alberto; Martelli, Paola; Miceli, Francesco; Maragliano, Luca; Benfenati, Fabio; Cilio, Maria R; Johannesen, Kathrine M; Møller, Rikke S; Ceulemans, Berten; Minetti, Carlo; Weckhuysen, Sarah; Zara, Federico; Taglialatela, Maurizio; Striano, Pasquale
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs
2019 Manganelli, Fiore; Parisi, S; Nolano, Maria; Miceli, Francesco; Tozza, Stefano; Pisciotta, Chiara; Iodice, Rosa; Provitera, Vincenzo; Cicatiello, Rita; Zuchner, Stephan; Taglialatela, Maurizio; Russo, Tommaso; Santoro, Lucio
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy
2019 Lauritano, Anna; Moutton, S; Longobardi, Elena; Tran Mau-Them, F; Laudati, G; Nappi, Piera; Soldovieri, Mv; Ambrosino, P; Cataldi, M; Jouan, T; Lehalle, D; Maurey, H; Philippe, C; Miceli, F; Vitobello, A; Taglialatela, M.
Activation of Kv7 potassium channels inhibits intracellular Ca2+ increases triggered by TRPV1-mediated pain-inducing stimuli in F11 immortalized sensory neurons
2019 Ambrosino, P.; Soldovieri, M. V.; Di Zazzo, E.; Paventi, G.; Iannotti, F. A.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Taglialatela, M.
Autism and developmental disability caused by KCNQ3 gain-of-function variants
2019 Sands, T. T.; Miceli, F.; Lesca, G.; Beck, A. E.; Sadleir, L. G.; Arrington, D. K.; Schonewolf-Greulich, B.; Moutton, S.; Lauritano, A.; Nappi, P.; Soldovieri, M. V.; Scheffer, I. E.; Mefford, H. C.; Stong, N.; Heinzen, E. L.; Goldstein, D. B.; Perez, A. G.; Kossoff, E. H.; Stocco, A.; Sullivan, J. A.; Shashi, V.; Gerard, B.; Francannet, C.; Bisgaard, A. -M.; Tumer, Z.; Willems, M.; Rivier, F.; Vitobello, A.; Thakkar, K.; Rajan, D. S.; Barkovich, A. J.; Weckhuysen, S.; Cooper, E. C.; Taglialatela, M.; Cilio, M. R.
Epileptic encephalopathy in a patientwith a novel variant in the Kv7.2 S2 transmembrane segment: Clinical, genetic, and functional features
2019 Soldovieri, M. V.; Ambrosino, P.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Kline-Fath, B.; Cooper, E. C.; Venkatesan, C.; Taglialatela, M.
Early treatment with quinidine in two patients with epilepsy of infancy with migrating focal seizures (EIMFS) due to gain-of-function KCNT1 mutations: functional studies, clinical responses and critical issues for personalized therapy
2018 Dilena, Robertino; Difrancesco, Jacopo C.; Virginia Soldovieri, Maria; Giacobbe, Antonella; Ambrosino, Paolo; Mosca, Ilaria; Albina Galli, Maria; Guez, Sophie; Fumagalli, Monica; Miceli, Francesco; Cattaneo, Dario; Darra, Franecsca; Gennaro, Elena; Striano, Pasquale; Zara, Federico; Castellotti, Barbara; Gellera, Cinzia; Varesio, Costanza; Veggiotti, Pierangelo; Taglialatela, Maurizio
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating
2018 Ambrosino, P; Freri, E; Castellotti, B; Soldovieri, Mv; Mosca, I; Manocchio, L; Gellera, C; Canafoglia, L; Franceschetti, S; Salis, B; Iraci, N; Miceli, F; Ragona, F; Granata, T; Difrancesco, Jc; Taglialatela, M.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Kv7 channel activation reduces brain endothelial cell permeability and prevents kainic acid-induced blood-brain barrier damage | 1.1 Articolo in rivista | 2024 | Celentano, Camilla; Carotenuto, Lidia; Miceli, Francesco; Carleo, Giusy; Corrado, Brunella; Baroli, Giulia; Iervolino, Stefania; Vecchione, Raffaele; Taglialatela, Maurizio; Barrese, Vincenzo | |
| Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment | 1.1 Articolo in rivista | 2024 | Bayat, Allan; Iavarone, Stefano; Miceli, Francesco; Jakobsen, Anne V; Johannesen, Katrine M; Nikanorova, Marina; Ploski, Rafal; Szymanska, Krystyna; Flamini, Robert; Cooper, Edward C; Weckhuysen, Sarah; Taglialatela, Maurizio; Møller, Rikke S | |
| GAIN-OF-FUNCTION DUE TO INCREASED OPENING PROBABILITY BY TWO KCNQ5 PORE VARIANTS CAUSING DEVELOPMENTAL AND/OR EPILEPTIC ENCEPHALOPATHY | 1.1 Articolo in rivista | 2022 | Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lescab, Gaetan; Labalmeb, Audrey; Villec, Dorothée; Smold, Thomas; Ramad, Mélanie; Dieux-Coesliere, Anne; Rivier-Ringenbachf, Clotilde; Virginia Soldovieri, Maria; Ambrosino, Paolo; Mosca, Ilaria; Puschi, Michael; Miceli, Francesco; Taglialatela, Maurizio | |
| Kv7.4 channels regulate potassium permeability in neuronal mitochondria | 1.1 Articolo in rivista | 2022 | Paventi, G.; Soldovieri, M. V.; Servettini, I.; Barrese, V.; Miceli, F.; Sisalli, M. J.; Ambrosino, P.; Mosca, I.; Vinciguerra, I.; Testai, L.; Scorziello, A.; Raimo, G.; Calderone, V.; Passarella, S.; Taglialatela, M. | |
| KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism | 1.1 Articolo in rivista | 2022 | Miceli, Francesco; Millevert, Charissa; Soldovieri, Maria Virginia; Mosca, Ilaria; Ambrosino, Paolo; Carotenuto, Lidia; Schrader, Dewi; Lee, Hyun Kyung; Riviello, James; Hong, William; Risen, Sarah; Emrick, Lisa; Amin, Hitha; Ville, Dorothée; Edery, Patrick; de Bellescize, Julitta; Michaud, Vincent; Van-Gils, Julien; Goizet, Cyril; Willemsen, Marjolein H; Kleefstra, Tjitske; Møller, Rikke S; Bayat, Allan; Devinsky, Orrin; Sands, Tristan; Korenke, G Christoph; Kluger, Gerhard; Mefford, Heather C; Brilstra, Eva; Lesca, Gaetan; Milh, Mathieu; Cooper, Edward C; Taglialatela, Maurizio; Weckhuysen, Sarah | |
| Beyond Retigabine: Design, Synthesis, and Pharmacological Characterization of a Potent and Chemically Stable Neuronal Kv7 Channel Activator with Anticonvulsant Activity | 1.1 Articolo in rivista | 2022 | Musella, Simona; Carotenuto, Lidia; Iraci, Nunzio; Baroli, Giulia; Ciaglia, Tania; Nappi, Piera; Basilicata, Manuela Giovanna; Salviati, Emanuela; Barrese, Vincenzo; Vestuto, Vincenzo; Pignataro, Giuseppe; Pepe, Giacomo; Sommella, Eduardo; Di Sarno, Veronica; Manfra, Michele; Campiglia, Pietro; Gomez-Monterrey, Isabel; Bertamino, Alessia; Taglialatela, Maurizio; Ostacolo, Carmine; Miceli, Francesco | |
| Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother | 1.1 Articolo in rivista | 2021 | Longobardi, Elena; Miceli, Francesco; Secondo, Agnese; Cicatiello, Rita; Izzo, Antonella; Tinto, Nadia; Moutton, Sebastien; Tran Mau-Them, Frédéric; Vitobello, Antonio; Taglialatela, Maurizio | |
| Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants | 1.1 Articolo in rivista | 2021 | Miceli, F.; Guerrini, R.; Nappi, M.; Soldovieri, M. V.; Cellini, E.; Gurnett, C. A.; Parmeggiani, L.; Mei, D.; Taglialatela, M. | |
| A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate | 1.1 Articolo in rivista | 2020 | Miceli, F.; Carotenuto, L.; Barrese, V.; Soldovieri, M. V.; Heinzen, E. L.; Mandel, A. M.; Lippa, N.; Bier, L.; Goldstein, D. B.; Cooper, E. C.; Cilio, M. R.; Taglialatela, M.; Sands, T. T. | |
| Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction | 1.1 Articolo in rivista | 2020 | Nappi, P.; Miceli, F.; Soldovieri, M. V.; Ambrosino, P.; Barrese, V.; Taglialatela, M. | |
| Synthesis and Pharmacological Characterization of Conformationally Restricted Retigabine Analogues as Novel Neuronal Kv7 Channel Activators | 1.1 Articolo in rivista | 2020 | Ostacolo, C.; Miceli, F.; DI SARNO, Valentina; Nappi, P.; Iraci, N.; Soldovieri, M. V.; Ciaglia, T.; Ambrosino, P.; Vestuto, V.; Lauritano, A.; Musella, S.; Pepe, G.; Basilicata, M. G.; Manfra, M.; Perinelli, D. R.; Novellino, E.; Bertamino, A.; Gomez-Monterrey, I. M.; Campiglia, P.; Taglialatela, M. | |
| The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding | 1.1 Articolo in rivista | 2020 | Dirkx, N; Miceli, F; Taglialatela, M; Weckhuysen, S | |
| Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants | 1.1 Articolo in rivista | 2020 | Malerba, Federica; Alberini, Giulio; Balagura, Ganna; Marchese, Francesca; Amadori, Elisabetta; Riva, Antonella; Vari, Maria Stella; Gennaro, Elena; Madia, Francesca; Salpietro, Vincenzo; Angriman, Marco; Giordano, Lucio; Accorsi, Patrizia; Trivisano, Marina; Specchio, Nicola; Russo, Angelo; Gobbi, Giuseppe; Raviglione, Federico; Pisano, Tiziana; Marini, Carla; Mancardi, Maria M; Nobili, Lino; Freri, Elena; Castellotti, Barbara; Capovilla, Giuseppe; Coppola, Antonietta; Verrotti, Alberto; Martelli, Paola; Miceli, Francesco; Maragliano, Luca; Benfenati, Fabio; Cilio, Maria R; Johannesen, Kathrine M; Møller, Rikke S; Ceulemans, Berten; Minetti, Carlo; Weckhuysen, Sarah; Zara, Federico; Taglialatela, Maurizio; Striano, Pasquale | |
| Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs | 1.1 Articolo in rivista | 2019 | Manganelli, Fiore; Parisi, S; Nolano, Maria; Miceli, Francesco; Tozza, Stefano; Pisciotta, Chiara; Iodice, Rosa; Provitera, Vincenzo; Cicatiello, Rita; Zuchner, Stephan; Taglialatela, Maurizio; Russo, Tommaso; Santoro, Lucio | |
| A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy | 1.1 Articolo in rivista | 2019 | Lauritano, Anna; Moutton, S; Longobardi, Elena; Tran Mau-Them, F; Laudati, G; Nappi, Piera; Soldovieri, Mv; Ambrosino, P; Cataldi, M; Jouan, T; Lehalle, D; Maurey, H; Philippe, C; Miceli, F; Vitobello, A; Taglialatela, M. | |
| Activation of Kv7 potassium channels inhibits intracellular Ca2+ increases triggered by TRPV1-mediated pain-inducing stimuli in F11 immortalized sensory neurons | 1.1 Articolo in rivista | 2019 | Ambrosino, P.; Soldovieri, M. V.; Di Zazzo, E.; Paventi, G.; Iannotti, F. A.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Taglialatela, M. | |
| Autism and developmental disability caused by KCNQ3 gain-of-function variants | 1.1 Articolo in rivista | 2019 | Sands, T. T.; Miceli, F.; Lesca, G.; Beck, A. E.; Sadleir, L. G.; Arrington, D. K.; Schonewolf-Greulich, B.; Moutton, S.; Lauritano, A.; Nappi, P.; Soldovieri, M. V.; Scheffer, I. E.; Mefford, H. C.; Stong, N.; Heinzen, E. L.; Goldstein, D. B.; Perez, A. G.; Kossoff, E. H.; Stocco, A.; Sullivan, J. A.; Shashi, V.; Gerard, B.; Francannet, C.; Bisgaard, A. -M.; Tumer, Z.; Willems, M.; Rivier, F.; Vitobello, A.; Thakkar, K.; Rajan, D. S.; Barkovich, A. J.; Weckhuysen, S.; Cooper, E. C.; Taglialatela, M.; Cilio, M. R. | |
| Epileptic encephalopathy in a patientwith a novel variant in the Kv7.2 S2 transmembrane segment: Clinical, genetic, and functional features | 1.1 Articolo in rivista | 2019 | Soldovieri, M. V.; Ambrosino, P.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Kline-Fath, B.; Cooper, E. C.; Venkatesan, C.; Taglialatela, M. | |
| Early treatment with quinidine in two patients with epilepsy of infancy with migrating focal seizures (EIMFS) due to gain-of-function KCNT1 mutations: functional studies, clinical responses and critical issues for personalized therapy | 1.1 Articolo in rivista | 2018 | Dilena, Robertino; Difrancesco, Jacopo C.; Virginia Soldovieri, Maria; Giacobbe, Antonella; Ambrosino, Paolo; Mosca, Ilaria; Albina Galli, Maria; Guez, Sophie; Fumagalli, Monica; Miceli, Francesco; Cattaneo, Dario; Darra, Franecsca; Gennaro, Elena; Striano, Pasquale; Zara, Federico; Castellotti, Barbara; Gellera, Cinzia; Varesio, Costanza; Veggiotti, Pierangelo; Taglialatela, Maurizio | |
| Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating | 1.1 Articolo in rivista | 2018 | Ambrosino, P; Freri, E; Castellotti, B; Soldovieri, Mv; Mosca, I; Manocchio, L; Gellera, C; Canafoglia, L; Franceschetti, S; Salis, B; Iraci, N; Miceli, F; Ragona, F; Granata, T; Difrancesco, Jc; Taglialatela, M. |
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