Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lidia, Carotenuto"'
Autor:
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James 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 Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
Summary: Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional propert
Externí odkaz:
https://doaj.org/article/27289a7516ba4ba9b422fb966fcb4594
Autor:
Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David B. Goldstein, Edward C. Cooper, Maria Roberta Cilio, Maurizio Taglialatela, Tristan T. Sands
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from b
Externí odkaz:
https://doaj.org/article/05430e2eb7dd4b1fbcd4f49e2c141c8d
Autor:
Mario, Nappi, Vincenzo, Barrese, Lidia, Carotenuto, Gaetan, Lesca, Audrey, Labalme, Dorothee, Ville, Thomas, Smol, Mélanie, Rama, Anne, Dieux-Coeslier, Clotilde, Rivier-Ringenbach, Maria Virginia, Soldovieri, Paolo, Ambrosino, Ilaria, Mosca, Michael, Pusch, Francesco, Miceli, Maurizio, Taglialatela
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(15)
Developmental and epileptic encephalopathies (DEEs) are neurodevelopmental diseases characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological features, and various degrees of developmental delay. Mutations in KCNQ2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72cb73f55976c58a302bddcabaa3b6df
https://pubmed.ncbi.nlm.nih.gov/35377796
https://pubmed.ncbi.nlm.nih.gov/35377796
Autor:
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaetan Lesca, Audrey Labalme, Dorothee Ville, Thomas Smol, Mélanie Rama, Anne Dieux-Coeslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela
Significance Variants in genes encoding neuronally expressed potassium channel subunits are frequent causes of developmental and epileptic encephalopathies (DEEs). Characterization of their functional consequences is critical to confirm diagnosis, as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0282c0bcf1a2367e46a9e2e0ebe02a01
http://hdl.handle.net/11695/107046
http://hdl.handle.net/11695/107046
Autor:
Simona Musella, Lidia Carotenuto, Nunzio Iraci, Giulia Baroli, Tania Ciaglia, Piera Nappi, Manuela Giovanna Basilicata, Emanuela Salviati, Vincenzo Barrese, Vincenzo Vestuto, Giuseppe Pignataro, Giacomo Pepe, Eduardo Sommella, Veronica Di Sarno, Michele Manfra, Pietro Campiglia, Isabel Gomez-Monterrey, Alessia Bertamino, Maurizio Taglialatela, Carmine Ostacolo, Francesco Miceli
Neuronal Kv7 channels represent important pharmacological targets for hyperexcitability disorders including epilepsy. Retigabine is the prototype Kv7 activator clinically approved for seizure treatment; however, severe side effects associated with lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43ccbb0b6fd03a1ce4af8080b74ef77c
http://hdl.handle.net/11386/4802811
http://hdl.handle.net/11386/4802811