Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Giuliana Messina"'
Autor:
Barbara Castellotti, Francesca Ragona, Elena Freri, Giuliana Messina, Stefania Magri, Roberto Previtali, Roberta Solazzi, Silvana Franceschetti, Franco Taroni, Laura Canafoglia, Cinzia Gellera, Tiziana Granata, Jacopo C. DiFrancesco
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1922-1930 (2024)
Abstract Objective The objective of this study is to report the results of the genetic analysis in a large and well‐characterized population with pediatric‐onset epilepsies and to identify those who could benefit from precision medicine treatment
Externí odkaz:
https://doaj.org/article/d468767ad5234ec49d894b0eed7f70a2
Autor:
Ilaria Mosca, Elena Freri, Paolo Ambrosino, Giorgio Belperio, Tiziana Granata, Laura Canafoglia, Francesca Ragona, Roberta Solazzi, Ilaria Filareto, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Variants in KCNT1 are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related h
Externí odkaz:
https://doaj.org/article/bb28e5e73dc348f28be4039a009a995c
Autor:
Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 645-650 (2023)
Abstract Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly invol
Externí odkaz:
https://doaj.org/article/7d3e80dc6a6a41d896d2acfe7678f400
Autor:
Roberta Solazzi, Francesca Ragona, Tiziana Granata, Jacopo C. DiFrancesco, Stefano D'Arrigo, Stefania Magri, Giuliana Messina, Barbara Castellotti, Elena Freri, Cinzia Gellera, Chiara Vannicola, Laura Canafoglia
Publikováno v:
Seizure. 88:143-145
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ddca802186c48cc28964171ad34e40
https://doi.org/10.1016/j.seizure.2021.04.012
https://doi.org/10.1016/j.seizure.2021.04.012
Autor:
Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Giuliana Messina, Silvana Franceschetti, Francesca Ragona, Elena Freri, Laura Canafoglia, Roberta Solazzi, Jacopo C. Di Francesco, Stefania Magri
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 23(4)
Pathogenic variants in the SCN8A gene have been associated with a broad phenotypic spectrum, ranging from benign familial infantile seizures to severe, early-onset developmental and epileptic encephalopathy. This spectrum also includes an "intermedia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508d8d464e8f92f058851fce21ef692b
https://pubmed.ncbi.nlm.nih.gov/34259158
https://pubmed.ncbi.nlm.nih.gov/34259158
Autor:
Silvana Franceschetti, Tiziana Granata, Vidmer Scaioli, Jacopo C. DiFrancesco, Roberta Solazzi, Francesca Ragona, Laura Canafoglia, Barbara Castellotti, Nardo Nardocci, Cinzia Gellera, Elena Freri, Giuliana Messina, Ferruccio Panzica
Publikováno v:
Seizure. 82:56-58
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7598f4f7ede0c4420e3e22f5809bf5
https://doi.org/10.1016/j.seizure.2020.09.011
https://doi.org/10.1016/j.seizure.2020.09.011
Autor:
Chiara Vannicola, Elena Freri, Ilaria Rivolta, Anna Binda, Giuliana Messina, Ilaria Mosca, Roberta Solazzi, Paolo Ambrosino, Gaetan Lesca, Laura Canafoglia, Carmen Murano, Jacopo C. DiFrancesco, Barbara Castellotti, Maria Virginia Soldovieri, Cinzia Gellera, Francesca Ragona, Audrey Labalme, Tiziana Granata, Maurizio Taglialatela
Publikováno v:
Pharmacological research. 160
De novo variants in KCNQ2 encoding for Kv7.2 voltage-dependent neuronal potassium (K+) channel subunits are associated with developmental epileptic encephalopathy (DEE). We herein describe a the clinical and electroencephalographic (EEG) features of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8632b37c763103cd443ca7b864087063
https://pubmed.ncbi.nlm.nih.gov/32942014
https://pubmed.ncbi.nlm.nih.gov/32942014