A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy

Autor: Antonella Riva, Roberta Roberti, Gianluca D'Onofrio, Maria Stella Vari, Elisabetta Amadori, Valentina De Giorgis, Caterina Cerminara, Nicola Specchio, Nicola Pietrafusa, Mario Tombini, Giovanni Assenza, Silvia Cappanera, Carla Marini, Paolo Rasmini, Pierangelo Veggiotti, Federico Zara, Emilio Russo, Pasquale Striano

Publikováno v: Epilepsia Open, Vol 8, Iss 3, Pp 1142-1150 (2023)

Abstract Response to antiseizure medications (ASMs) can be influenced by several gene polymorphisms, causing either lower efficacy or higher occurrence of adverse drug reactions (ADRs). We investigated the clinical utility of salivary pharmacogenomic

Externí odkaz: https://doaj.org/article/89748850918e4af5aae8b4008c9d68b6

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus

Autor: Antonella Riva, Elisabetta Amadori, Maria Stella Vari, Alberto Spalice, Vincenzo Belcastro, Maurizio Viri, Donatella Capodiferro, Antonino Romeo, Alberto Verrotti, the Delphi panel experts’ group, Pasquale Striano

Publikováno v: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

Abstract Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected pat

Externí odkaz: https://doaj.org/article/601f49e823274baab2af3437846107b6

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Autor: Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano

Publikováno v: Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)

Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallel

Externí odkaz: https://doaj.org/article/37130414555649a190c5a80fa2b786f8

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

Autor: Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Rios, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Simona Baldassari, Francesca Beccaria, Antonella Boni, Mauro Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Annarita Ferrari, Elena Fiorini, Francesca Madia, Elena Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud Toonen, Federico Zara, Ingo Helbig, Pasquale Striano

Publikováno v: Balagura, G, Xian, J, Riva, A, Marchese, F, Zeev, B B, Rios, L, Sirsi, D, Accorsi, P, Amadori, E, Astrea, G, Baldassari, S, Beccaria, F, Boni, A, Budetta, M, Cantalupo, G, Capovilla, G, Cesaroni, E, Chiesa, V, Coppola, A, Dilena, R, Faggioli, R, Ferrari, A, Fiorini, E, Madia, F, Gennaro, E, Giacomini, T, Giordano, L, Iacomino, M, Lattanzi, S, Marini, C, Mancardi, M M, Mastrangelo, M, Messana, T, Minetti, C, Nobili, L, Papa, A, Parmeggiani, A, Pisano, T, Russo, A, Salpietro, V, Savasta, S, Scala, M, Accogli, A, Scelsa, B, Scudieri, P, Spalice, A, Specchio, N, Trivisano, M, Tzadok, M, Valeriani, M, Vari, M S, Verrotti, A, Vigevano, F, Vignoli, A, Toonen, R, Zara, F, Helbig, I & Striano, P 2022, ' Epilepsy Course and Developmental Trajectories in STXBP1-DEE ', Neurology: Genetics, vol. 8, no. 3, e676, pp. 1-15 . https://doi.org/10.1212/NXG.0000000000000676
Neurology: Genetics, 8(3):e676, 1-15. Lippincott Williams and Wilkins

Background and ObjectivesClinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ca8af23bdf556c10e7ec172d6b0f98
https://doi.org/10.1212/NXG.0000000000000676

Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series

Autor: Nadia Ronzano, Marcello Scala, Emanuela Abiusi, Ilaria Contaldo, Chiara Leoni, Maria Stella Vari, Tiziana Pisano, Domenica Battaglia, Maurizio Genuardi, Maurizio Elia, Pasquale Striano, Dario Pruna

Publikováno v: Seizure. 100:82-86

EEG anomalies and epilepsy are a not so rare clinical manifestation in patients with Phosphatase and tensin homolog (PTEN) variants. The main aim of this study is to analyze the characteristics of EEG traces, neuroimaging findings and epilepsy to bet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c51dcefb6862fcf10ba554fb4a8a09c
https://doi.org/10.1016/j.seizure.2022.06.013