Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Piernanda, Vigliano"'
Autor:
Alessandra Moletto, Samuele Cortese, Piernanda Vigliano, Giovanni Battista Galloni, Mauro Mana, Irene Bagnasco, Giuliana Delia
Publikováno v:
European Journal of Pediatrics. 175:695-704
Children with ADHD may present with sleep disturbances that add to the impairment of the disorder. The long-term sleep effects of the first-line pharmacological treatment for ADHD, i.e., psychostimulants, are unclear. In this pilot study, we compared
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c0cd5ef828b79e30d58bed48b578179
https://doi.org/10.1007/s00431-016-2695-9
https://doi.org/10.1007/s00431-016-2695-9
Publikováno v:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 34(8)
To study the long-term neurocognitive changes of a right-handed girl with intractable epilepsy after late right hemispherectomy and compare them with data in the literature. The girl was affected by an epileptic encephalopathy associated with right f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26715375b5d6d4a232d1f5ac3fc6fe7c
https://pubmed.ncbi.nlm.nih.gov/29564536
https://pubmed.ncbi.nlm.nih.gov/29564536
Publikováno v:
Seizure. 56
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. Recently various authors have reported patients carrying autosomal dominant heterozygous SCN8A mutations and a milder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd0a7876bf89557e5ffc424c382b99fe
https://pubmed.ncbi.nlm.nih.gov/29432985
https://pubmed.ncbi.nlm.nih.gov/29432985
Publikováno v:
Brain and Development. 32:579-582
Since the age of three years the patient suffered from early drug-resistant partial epilepsy with electric status during slow sleep, owing to a micropolygyric malformation of the right fronto-temporo-parietal lobes. The hemispherotomy (when five year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852a36c98eed60b453b702e9c44b722d
https://doi.org/10.1016/j.braindev.2009.07.010
https://doi.org/10.1016/j.braindev.2009.07.010
Autor:
Antonio Gambardella, Daniela Buti, Emilio LePiane, Barbara Castellotti, Gaetano Tortorella, Amedeo Bianchi, Piernanda Vigliano, Renzo Guerrini, Rosanna Chifari, Grazia Annesi, Vito Sofia, Pasquale Striano, Aglaia Vignoli, Angelo Labate, Carla Marini, Aldo Quattrone, Giuseppe Capovilla, Salvatore Striano, Roberto Michelucci, Dante Besana, Ferdinanda Annesi, Umberto Aguglia, Maurizio Elia, Francesco Calì, Maria Paola Canevini, Francesca Beccaria, Giulietta Tabiadon, Francesca E. Rocca
Publikováno v:
Epilepsia. 48:1686-1690
Summary: Objectives: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene. Materials and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3907833bd5c2d2ba74b9f035199e39e
https://doi.org/10.1111/j.1528-1167.2007.01173.x
https://doi.org/10.1111/j.1528-1167.2007.01173.x
Autor:
Francesca Madia, Bernardo Dalla Bernardina, Maurizio Viri, Piernanda Vigliano, Margherita Santucci, Maria Luisa Lispi, Annarita Ferrari, Elena Gennaro, Roberto Gaggero, Daniela Buti, Francesca Vanadia, Pierangelo Veggiotti, Amedeo Bianchi, Tiziana Granata, Lucio Giordano, Melania Giannotta, Lorita La Selva, Franca Dagna Bricarelli, Elena Fontana, Massimiliano Cecconi, Maurizio Elia, Federico Zara, Giuseppe Capovilla
Publikováno v:
Epilepsy Research. 53:196-200
Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated α-1 sodium channel subunit—SCN1A—have been identified as a common cause of SMEI. Moreover, a mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a34c633471d6606e8a883cfdef6fd37a
https://doi.org/10.1016/s0920-1211(03)00022-6
https://doi.org/10.1016/s0920-1211(03)00022-6
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion
Autor:
Piernanda Vigliano, Luigi Del Gaudio, Monica Traverso, Federico Zara, Eleonora Di Gregorio, Carlo Minetti, Antonietta Coppola, Alfredo Brusco, Pasquale Striano, Lia Santulli, Carmela Caccavale, Irene Bagnasco, Salvatore Striano
Publikováno v:
Epilepsia. 54(5)
15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d45f36992d82f167c5b0b73ad4adda4
https://pubmed.ncbi.nlm.nih.gov/23448223
https://pubmed.ncbi.nlm.nih.gov/23448223
Autor:
Stefania Gimelli, Giangennaro Coppola, Maria Pintaudi, Francesca Felicia Operto, Antonietta Coppola, Federico Zara, Tiziana Granata, Federico Sicca, Anthony A. Romeo, Pasquale Striano, M. Traverso, S Giovannini, Giorgio Gimelli, Angela Robbiano, Nicola Specchio, Roberta Paravidino, Pietro Chiurazzi, L. Giordano, Carlo Minetti, LR Osborne, Piernanda Vigliano
West syndrome (WS) is characterized by infantile-onset flexor and extensor spasms, an EEG pattern of a high amplitude with asynchronous activity of spikes and theta/delta waves (hypsarrhythmia), and impaired psychomotor development.1 In about 70%–8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54a5abb2516e69758a5c0b5bb8805b90
http://hdl.handle.net/11588/722346
http://hdl.handle.net/11588/722346
Autor:
Elena Pasini, A. Teresa Giallonardo, Oriano Mecarelli, Roberto Michelucci, Clementina Boniver, Giangennaro Coppola, Francesca Bisulli, Susanna Casellato, Piernanda Vigliano, Umberto Aguglia, Tiziana Granata, Pasquale Striano, Antonia Parmeggiani, Sandro Malacrida, Edoardo Ferlazzo, Carlo Di Bonaventura, Elena Freri, Gabriella Egeo, Giuseppe Gobbi, Giorgia Busolin, Paolo Tinuper, Annio Posar, Maurizio Elia, Amedeo Bianchi, Simona Binelli, Salvatore Striano, Vittoria Cianci, Carlo Nobile, Marco Marchini
The KCNAB1 gene is a candidate susceptibility factor for lateral temporal epilepsy (LTE) because of its functional interaction with LGI1, the gene responsible for the autosomal dominant form of LTE. We investigated association between polymorphic var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3539444f650753fccb39af3befcc850d
http://hdl.handle.net/11573/355476
http://hdl.handle.net/11573/355476
Autor:
Striano, Pasquale, Paravidino, R, Federico, Sicca, Pietro, Chiurazzi, Stefania, Gimelli, Antonietta, Coppola, Angela, Robbiano, Monica, Traverso, Maria, Pintaudi, Simona, Giovannini, Francesca, Operto, Piernanda, Vigliano, Tiziana, Granata, Antonio, Romeo, Giangennaro, Coppola, Nicola, Specchio, Lucio, Giordano, Osborne, LUCY R., Giorgio, Gimelli, Minetti, Carlo, Zara, Federico
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::4d9e4293672d7c8067b715668c803f61
http://hdl.handle.net/11567/258074
http://hdl.handle.net/11567/258074