Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lorita La Selva"'
Autor:
Lorita La Selva, Delphine Héron, Diana Rodriguez, Marilyn Tallot, Bénédicte Gérard, Charlotte Poe, David Cheillan, Anne Pervillé, Solveig Heide, Damien Haye, Christel Thauvin-Robinet, Yline Capri, Laurence Faivre, Julien Buratti, Marie-Line Jacquemont, Lionel Arnaud, Michel Renouil, Caroline Nava, Renzo Guerrini, Eric LeGuern, Boris Keren, Françoise Darcel, Amélie Piton, Cyril Mignot, Marc Bintner, Yannis Duffourd, Julien Thevenon, Laurence Perrin, Sandrine Passemard, Annalisa Vetro, Domitille Gras, J. Miquel, Charles E. Schwartz
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
International audience; PURPOSE: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a foun
Autor:
Lorita La Selva, Angela La Neve, Luigi Maria Specchio, Giuseppe d'Orsi, Francesco Scarpelli, Maria Grazia Pascarella, Maria Teresa Di Claudio, Marina Trivisano, Teresa Calvario, Concetta Luisi, Dante Galeone, Vittorio Sciruicchio, Vincenzo Demaio, Mauro G. Minervini
Publikováno v:
Epilepsy & Behavior. 25:401-407
Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic
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
Autor:
Mario Paola Canevini, Ada Piazzini, Claudio Zucca, Lorita La Selva, Aglaia Vignoli, Elena Fiorini, Bernardo Dalla Bernardina, Francesca Darra, Francesca Lazzarotto
Summary Purpose: Ring chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4488cae1f6403c0548152858ec963df0
http://hdl.handle.net/11562/342884
http://hdl.handle.net/11562/342884
Publikováno v:
Pediatric Neurology. 50:e5