Sfoglia per Autore
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy
2019-01-01 Lauritano, A.; Moutton, S.; Longobardi, E.; Tran Mau-Them, F.; Laudati, G.; Nappi, P.; Soldovieri, M. V.; Ambrosino, P.; Cataldi, M.; Jouan, T.; Lehalle, D.; Maurey, H.; Philippe, C.; Miceli, F.; Vitobello, A.; Taglialatela, M.
Epileptic encephalopathy in a patientwith a novel variant in the Kv7.2 S2 transmembrane segment: Clinical, genetic, and functional features
2019-01-01 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.
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction
2020-01-01 Nappi, P.; Miceli, F.; Soldovieri, M. V.; Ambrosino, P.; Barrese, V.; Taglialatela, M.
Calcium cytotoxicity sensitizes prostate cancer cells to standard-of-care treatments for locally advanced tumors
2020-01-01 Alaimo, A.; Lorenzoni, M.; Ambrosino, P.; Bertossi, A.; Bisio, A.; Macchia, A.; Zoni, E.; Genovesi, S.; Cambuli, F.; Foletto, V.; De Felice, D.; Soldovieri, M. V.; Mosca, I.; Gandolfi, F.; Brunelli, M.; Petris, G.; Cereseto, A.; Villarroel, A.; Thalmann, G.; Carbone, F. G.; Kruithof-de Julio, M.; Barbareschi, M.; Romanel, A.; Taglialatela, M.; Lunardi, A.
Synthesis and Pharmacological Characterization of Conformationally Restricted Retigabine Analogues as Novel Neuronal Kv7 Channel Activators
2020-01-01 Ostacolo, Carmine; Miceli, Francesco; Di Sarno, Veronica; Nappi, Piera; Iraci, Nunzio; Soldovieri, Maria Virginia; Ciaglia, Tania; Ambrosino, Paolo; Vestuto, Vincenzo; Lauritano, Anna; Musella, Simona; Pepe, Giacomo; Basilicata, Manuela Giovanna; Manfra, Michele; Perinelli, Diego Romano; Novellino, Ettore; Bertamino, Alessia; Gomez-Monterrey, Isabel M; Campiglia, Pietro; Taglialatela, Maurizio
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
2020-01-01 Soldovieri, M. V.; Freri, E.; Ambrosino, P.; Rivolta, I.; Mosca, I.; Binda, A.; Murano, C.; Ragona, F.; Canafoglia, L.; Vannicola, C.; Solazzi, R.; Granata, T.; Castellotti, B.; Messina, G.; Gellera, C.; Labalme, A.; Lesca, G.; Difrancesco, J. C.; Taglialatela, M.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
2022-01-01 Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Mélanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes
2022-01-01 Mosca, Ilaria; Rivolta, Ilaria; Labalme, Audrey; Ambrosino, Paolo; Castellotti, Barbara; Gellera, Cinzia; Granata, Tiziana; Freri, Elena; Binda, Anna; Lesca, Gaetan; Difrancesco, Jacopo C; Soldovieri, Maria Virginia; Taglialatela, Maurizio
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
2022-01-01 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
Kv7.4 channels regulate potassium permeability in neuronal mitochondria
2022-01-01 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.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
2023-01-01 Cioclu, Maria Cristina; Mosca, Ilaria; Ambrosino, Paolo; Puzo, Deborah; Bayat, Allan; Wortmann, Saskia B; Koch, Johannes; Strehlow, Vincent; Shirai, Kentaro; Matsumoto, Naomichi; Sanders, Stephan J; Michaud, Vincent; Legendre, Marine; Riva, Antonella; Striano, Pasquale; Muhle, Hiltrud; Pendziwiat, Manuela; Lesca, Gaetan; Mangano, Giuseppe Donato; Nardello, Rosaria; Lemke, Johannes R; Møller, Rikke S; Soldovieri, Maria Virginia; Rubboli, Guido; Taglialatela, Maurizio
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine
2023-01-01 Ambrosino, Paolo; Ragona, Francesca; Mosca, Ilaria; Vannicola, Chiara; Canafoglia, Laura; Solazzi, Roberta; Rivolta, Ilaria; Freri, Elena; Granata, Tiziana; Messina, Giuliana; Castellotti, Barbara; Gellera, Cinzia; Soldovieri, Maria Virginia; Difrancesco, Jacopo Cosimo; Taglialatela, Maurizio
De novo variants in KCNA3 cause developmental and epileptic encephalopathy
2024-01-01 Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Servettini, Ilenio; Pietrunti, Francesca; Belperio, Giorgio; Syrbe, Steffen; Taglialatela, Maurizio; Lemke, Johannes R
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy | 1-gen-2019 | Lauritano, A.; Moutton, S.; Longobardi, E.; Tran Mau-Them, F.; Laudati, G.; Nappi, P.; Soldovieri, M. V.; Ambrosino, P.; Cataldi, M.; Jouan, T.; Lehalle, D.; Maurey, H.; Philippe, C.; Miceli, F.; Vitobello, A.; Taglialatela, M. | |
| Epileptic encephalopathy in a patientwith a novel variant in the Kv7.2 S2 transmembrane segment: Clinical, genetic, and functional features | 1-gen-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. | |
| Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction | 1-gen-2020 | Nappi, P.; Miceli, F.; Soldovieri, M. V.; Ambrosino, P.; Barrese, V.; Taglialatela, M. | |
| Calcium cytotoxicity sensitizes prostate cancer cells to standard-of-care treatments for locally advanced tumors | 1-gen-2020 | Alaimo, A.; Lorenzoni, M.; Ambrosino, P.; Bertossi, A.; Bisio, A.; Macchia, A.; Zoni, E.; Genovesi, S.; Cambuli, F.; Foletto, V.; De Felice, D.; Soldovieri, M. V.; Mosca, I.; Gandolfi, F.; Brunelli, M.; Petris, G.; Cereseto, A.; Villarroel, A.; Thalmann, G.; Carbone, F. G.; Kruithof-de Julio, M.; Barbareschi, M.; Romanel, A.; Taglialatela, M.; Lunardi, A. | |
| Synthesis and Pharmacological Characterization of Conformationally Restricted Retigabine Analogues as Novel Neuronal Kv7 Channel Activators | 1-gen-2020 | Ostacolo, Carmine; Miceli, Francesco; Di Sarno, Veronica; Nappi, Piera; Iraci, Nunzio; Soldovieri, Maria Virginia; Ciaglia, Tania; Ambrosino, Paolo; Vestuto, Vincenzo; Lauritano, Anna; Musella, Simona; Pepe, Giacomo; Basilicata, Manuela Giovanna; Manfra, Michele; Perinelli, Diego Romano; Novellino, Ettore; Bertamino, Alessia; Gomez-Monterrey, Isabel M; Campiglia, Pietro; Taglialatela, Maurizio | |
| Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy | 1-gen-2020 | Soldovieri, M. V.; Freri, E.; Ambrosino, P.; Rivolta, I.; Mosca, I.; Binda, A.; Murano, C.; Ragona, F.; Canafoglia, L.; Vannicola, C.; Solazzi, R.; Granata, T.; Castellotti, B.; Messina, G.; Gellera, C.; Labalme, A.; Lesca, G.; Difrancesco, J. C.; Taglialatela, M. | |
| Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy | 1-gen-2022 | Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Mélanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio | |
| Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes | 1-gen-2022 | Mosca, Ilaria; Rivolta, Ilaria; Labalme, Audrey; Ambrosino, Paolo; Castellotti, Barbara; Gellera, Cinzia; Granata, Tiziana; Freri, Elena; Binda, Anna; Lesca, Gaetan; Difrancesco, Jacopo C; Soldovieri, Maria Virginia; Taglialatela, Maurizio | |
| KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism | 1-gen-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 | |
| Kv7.4 channels regulate potassium permeability in neuronal mitochondria | 1-gen-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. | |
| KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties | 1-gen-2023 | Cioclu, Maria Cristina; Mosca, Ilaria; Ambrosino, Paolo; Puzo, Deborah; Bayat, Allan; Wortmann, Saskia B; Koch, Johannes; Strehlow, Vincent; Shirai, Kentaro; Matsumoto, Naomichi; Sanders, Stephan J; Michaud, Vincent; Legendre, Marine; Riva, Antonella; Striano, Pasquale; Muhle, Hiltrud; Pendziwiat, Manuela; Lesca, Gaetan; Mangano, Giuseppe Donato; Nardello, Rosaria; Lemke, Johannes R; Møller, Rikke S; Soldovieri, Maria Virginia; Rubboli, Guido; Taglialatela, Maurizio | |
| A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine | 1-gen-2023 | Ambrosino, Paolo; Ragona, Francesca; Mosca, Ilaria; Vannicola, Chiara; Canafoglia, Laura; Solazzi, Roberta; Rivolta, Ilaria; Freri, Elena; Granata, Tiziana; Messina, Giuliana; Castellotti, Barbara; Gellera, Cinzia; Soldovieri, Maria Virginia; Difrancesco, Jacopo Cosimo; Taglialatela, Maurizio | |
| De novo variants in KCNA3 cause developmental and epileptic encephalopathy | 1-gen-2024 | Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Servettini, Ilenio; Pietrunti, Francesca; Belperio, Giorgio; Syrbe, Steffen; Taglialatela, Maurizio; Lemke, Johannes R |
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