NAPPI, MARIO
NAPPI, MARIO
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.
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
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy
2024 Nappi, Mario; Alberini, Giulio; Berselli, Alessandro; Roscioni, Agnese; Soldovieri, Maria Virginia; Servettini, Ilenio; Barrese, Vincenzo; Weckhuysen, Sarah; Chiu, Ting-Gee Annie; Scheffer, Ingrid E; Benfenati, Fabio; Maragliano, Luca; Miceli, Francesco; Taglialatela, Maurizio
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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. | |
| 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 | |
| Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy | 1.1 Articolo in rivista | 2024 | Nappi, Mario; Alberini, Giulio; Berselli, Alessandro; Roscioni, Agnese; Soldovieri, Maria Virginia; Servettini, Ilenio; Barrese, Vincenzo; Weckhuysen, Sarah; Chiu, Ting-Gee Annie; Scheffer, Ingrid E; Benfenati, Fabio; Maragliano, Luca; Miceli, Francesco; Taglialatela, Maurizio |